SNP Links for Protein (Select 34452681) - SNP

Select item 14892166891.

rs1489216689 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC [Show Flanks]
Chromosome:: 12:120534839 (GRCh38)
12:120972643 (GRCh37)
Canonical SPDI:: NC_000012.12:120534839:CCACC:CCACCACC
Gene:: RNF10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa
MAF:: CCACCACC=0./0 (ALFA)
HGVS:: NC_000012.12:g.120534842_120534844dup, NC_000012.11:g.120972645_120972647dup, NM_014868.5:c.31_33dup, NM_014868.4:c.31_33dup, XM_005254013.3:c.-221_-219dup, XM_005254013.2:c.-221_-219dup, XM_005254013.1:c.-221_-219dup, XM_017020283.3:c.31_33dup, XM_017020283.2:c.31_33dup, XM_017020283.1:c.31_33dup, XM_017020282.2:c.-221_-219dup, XM_017020282.1:c.-221_-219dup, NM_001330474.2:c.31_33dup, NM_001330474.1:c.31_33dup, XM_047429937.1:c.31_33dup, XM_047429938.1:c.31_33dup, XM_047429940.1:c.31_33dup, XM_047429941.1:c.31_33dup, XM_047429939.1:c.31_33dup, XM_047429942.1:c.31_33dup, NP_055683.3:p.Thr11dup, XP_016875772.1:p.Thr11dup, NP_001317403.1:p.Thr11dup, XP_047285893.1:p.Thr11dup, XP_047285894.1:p.Thr11dup, XP_047285896.1:p.Thr11dup, XP_047285897.1:p.Thr11dup, XP_047285895.1:p.Thr11dup, XP_047285898.1:p.Thr11dup

Select item 14884272072.

rs1488427207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120534930 (GRCh38)
12:120972733 (GRCh37)
Canonical SPDI:: NC_000012.12:120534929:C:T
Gene:: RNF10 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120534930C>T, NC_000012.11:g.120972733C>T, NM_014868.5:c.119C>T, NM_014868.4:c.119C>T, XM_005254013.3:c.-133C>T, XM_005254013.2:c.-133C>T, XM_005254013.1:c.-133C>T, XM_017020283.3:c.119C>T, XM_017020283.2:c.119C>T, XM_017020283.1:c.119C>T, XM_017020282.2:c.-133C>T, XM_017020282.1:c.-133C>T, NM_001330474.2:c.119C>T, NM_001330474.1:c.119C>T, XM_047429937.1:c.119C>T, XM_047429938.1:c.119C>T, XM_047429940.1:c.119C>T, XM_047429941.1:c.119C>T, XM_047429939.1:c.119C>T, XM_047429942.1:c.119C>T, NP_055683.3:p.Ala40Val, XP_016875772.1:p.Ala40Val, NP_001317403.1:p.Ala40Val, XP_047285893.1:p.Ala40Val, XP_047285894.1:p.Ala40Val, XP_047285896.1:p.Ala40Val, XP_047285897.1:p.Ala40Val, XP_047285895.1:p.Ala40Val, XP_047285898.1:p.Ala40Val

Select item 14866802023.

rs1486680202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120563375 (GRCh38)
12:121001178 (GRCh37)
Canonical SPDI:: NC_000012.12:120563374:A:G
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120563375A>G, NC_000012.11:g.121001178A>G, NM_014868.5:c.1283A>G, NM_014868.4:c.1283A>G, XM_005254013.3:c.1148A>G, XM_005254013.2:c.1148A>G, XM_005254013.1:c.1148A>G, XM_017020283.3:c.1298A>G, XM_017020283.2:c.1298A>G, XM_017020283.1:c.1298A>G, XM_017020282.2:c.1133A>G, XM_017020282.1:c.1133A>G, NM_001330474.2:c.1298A>G, NM_001330474.1:c.1298A>G, XM_047429937.1:c.1298A>G, XM_047429938.1:c.1283A>G, XM_047429940.1:c.1298A>G, XM_047429941.1:c.1283A>G, XM_047429939.1:c.1298A>G, XM_047429942.1:c.1298A>G, NP_055683.3:p.Asp428Gly, XP_005254070.1:p.Asp383Gly, XP_016875772.1:p.Asp433Gly, XP_016875771.1:p.Asp378Gly, NP_001317403.1:p.Asp433Gly, XP_047285893.1:p.Asp433Gly, XP_047285894.1:p.Asp428Gly, XP_047285896.1:p.Asp433Gly, XP_047285897.1:p.Asp428Gly, XP_047285895.1:p.Asp433Gly, XP_047285898.1:p.Asp433Gly

Select item 14863515784.

rs1486351578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 12:120563463 (GRCh38)
12:121001267 (GRCh37)
Canonical SPDI:: NC_000012.12:120563463:CC:CCC
Gene:: RNF10 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120563465dup, NC_000012.11:g.121001268dup, NM_014868.5:c.1373dup, NM_014868.4:c.1373dup, XM_005254013.3:c.1238dup, XM_005254013.2:c.1238dup, XM_005254013.1:c.1238dup, XM_017020283.3:c.1388dup, XM_017020283.2:c.1388dup, XM_017020283.1:c.1388dup, XM_017020282.2:c.1223dup, XM_017020282.1:c.1223dup, NM_001330474.2:c.1388dup, NM_001330474.1:c.1388dup, XM_047429937.1:c.1388dup, XM_047429938.1:c.1373dup, XM_047429940.1:c.1388dup, XM_047429941.1:c.1373dup, XM_047429939.1:c.1388dup, XM_047429942.1:c.1388dup, NP_055683.3:p.Glu459fs, XP_005254070.1:p.Glu414fs, XP_016875772.1:p.Glu464fs, XP_016875771.1:p.Glu409fs, NP_001317403.1:p.Glu464fs, XP_047285893.1:p.Glu464fs, XP_047285894.1:p.Glu459fs, XP_047285896.1:p.Glu464fs, XP_047285897.1:p.Glu459fs, XP_047285895.1:p.Glu464fs, XP_047285898.1:p.Glu464fs

Select item 14847604235.

rs1484760423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120563569 (GRCh38)
12:121001372 (GRCh37)
Canonical SPDI:: NC_000012.12:120563568:A:G
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120563569A>G, NC_000012.11:g.121001372A>G, NM_014868.5:c.1477A>G, NM_014868.4:c.1477A>G, XM_005254013.3:c.1342A>G, XM_005254013.2:c.1342A>G, XM_005254013.1:c.1342A>G, XM_017020283.3:c.1492A>G, XM_017020283.2:c.1492A>G, XM_017020283.1:c.1492A>G, XM_017020282.2:c.1327A>G, XM_017020282.1:c.1327A>G, NM_001330474.2:c.1492A>G, NM_001330474.1:c.1492A>G, XM_047429937.1:c.1492A>G, XM_047429938.1:c.1477A>G, XM_047429940.1:c.1492A>G, XM_047429941.1:c.1477A>G, XM_047429939.1:c.1492A>G, XM_047429942.1:c.1492A>G, NP_055683.3:p.Thr493Ala, XP_005254070.1:p.Thr448Ala, XP_016875772.1:p.Thr498Ala, XP_016875771.1:p.Thr443Ala, NP_001317403.1:p.Thr498Ala, XP_047285893.1:p.Thr498Ala, XP_047285894.1:p.Thr493Ala, XP_047285896.1:p.Thr498Ala, XP_047285897.1:p.Thr493Ala, XP_047285895.1:p.Thr498Ala, XP_047285898.1:p.Thr498Ala

Select item 14847201076.

rs1484720107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:120565161 (GRCh38)
12:121002964 (GRCh37)
Canonical SPDI:: NC_000012.12:120565160:C:G
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120565161C>G, NC_000012.11:g.121002964C>G, NM_014868.5:c.1755C>G, NM_014868.4:c.1755C>G, XM_005254013.3:c.1620C>G, XM_005254013.2:c.1620C>G, XM_005254013.1:c.1620C>G, XM_017020283.3:c.1770C>G, XM_017020283.2:c.1770C>G, XM_017020283.1:c.1770C>G, XM_017020282.2:c.1605C>G, XM_017020282.1:c.1605C>G, NM_001330474.2:c.1770C>G, NM_001330474.1:c.1770C>G, XM_047429937.1:c.1770C>G, XM_047429938.1:c.1755C>G, XM_047429940.1:c.1770C>G, XM_047429941.1:c.1755C>G, XM_047429939.1:c.1770C>G, XM_047429942.1:c.1770C>G

Select item 14819422227.

rs1481942222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120560804 (GRCh38)
12:120998607 (GRCh37)
Canonical SPDI:: NC_000012.12:120560803:A:G
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120560804A>G, NC_000012.11:g.120998607A>G, NM_014868.5:c.1046A>G, NM_014868.4:c.1046A>G, XM_005254013.3:c.896A>G, XM_005254013.2:c.896A>G, XM_005254013.1:c.896A>G, XM_017020283.3:c.1046A>G, XM_017020283.2:c.1046A>G, XM_017020283.1:c.1046A>G, XM_017020282.2:c.896A>G, XM_017020282.1:c.896A>G, NM_001330474.2:c.1046A>G, NM_001330474.1:c.1046A>G, XM_047429937.1:c.1046A>G, XM_047429938.1:c.1046A>G, XM_047429940.1:c.1046A>G, XM_047429941.1:c.1046A>G, XM_047429939.1:c.1046A>G, XM_047429942.1:c.1046A>G, NP_055683.3:p.Lys349Arg, XP_005254070.1:p.Lys299Arg, XP_016875772.1:p.Lys349Arg, XP_016875771.1:p.Lys299Arg, NP_001317403.1:p.Lys349Arg, XP_047285893.1:p.Lys349Arg, XP_047285894.1:p.Lys349Arg, XP_047285896.1:p.Lys349Arg, XP_047285897.1:p.Lys349Arg, XP_047285895.1:p.Lys349Arg, XP_047285898.1:p.Lys349Arg

Select item 14801460048.

rs1480146004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120534891 (GRCh38)
12:120972694 (GRCh37)
Canonical SPDI:: NC_000012.12:120534890:C:T
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.120534891C>T, NC_000012.11:g.120972694C>T, NM_014868.5:c.80C>T, NM_014868.4:c.80C>T, XM_005254013.3:c.-172C>T, XM_005254013.2:c.-172C>T, XM_005254013.1:c.-172C>T, XM_017020283.3:c.80C>T, XM_017020283.2:c.80C>T, XM_017020283.1:c.80C>T, XM_017020282.2:c.-172C>T, XM_017020282.1:c.-172C>T, NM_001330474.2:c.80C>T, NM_001330474.1:c.80C>T, XM_047429937.1:c.80C>T, XM_047429938.1:c.80C>T, XM_047429940.1:c.80C>T, XM_047429941.1:c.80C>T, XM_047429939.1:c.80C>T, XM_047429942.1:c.80C>T, NP_055683.3:p.Ser27Phe, XP_016875772.1:p.Ser27Phe, NP_001317403.1:p.Ser27Phe, XP_047285893.1:p.Ser27Phe, XP_047285894.1:p.Ser27Phe, XP_047285896.1:p.Ser27Phe, XP_047285897.1:p.Ser27Phe, XP_047285895.1:p.Ser27Phe, XP_047285898.1:p.Ser27Phe

Select item 14782543409.

rs1478254340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:120557302 (GRCh38)
12:120995105 (GRCh37)
Canonical SPDI:: NC_000012.12:120557301:G:A,NC_000012.12:120557301:G:T
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120557302G>A, NC_000012.12:g.120557302G>T, NC_000012.11:g.120995105G>A, NC_000012.11:g.120995105G>T, NM_014868.5:c.666G>A, NM_014868.5:c.666G>T, NM_014868.4:c.666G>A, NM_014868.4:c.666G>T, XM_005254013.3:c.516G>A, XM_005254013.3:c.516G>T, XM_005254013.2:c.516G>A, XM_005254013.2:c.516G>T, XM_005254013.1:c.516G>A, XM_005254013.1:c.516G>T, XM_017020283.3:c.666G>A, XM_017020283.3:c.666G>T, XM_017020283.2:c.666G>A, XM_017020283.2:c.666G>T, XM_017020283.1:c.666G>A, XM_017020283.1:c.666G>T, XM_017020282.2:c.516G>A, XM_017020282.2:c.516G>T, XM_017020282.1:c.516G>A, XM_017020282.1:c.516G>T, NM_001330474.2:c.666G>A, NM_001330474.2:c.666G>T, NM_001330474.1:c.666G>A, NM_001330474.1:c.666G>T, XM_047429937.1:c.666G>A, XM_047429937.1:c.666G>T, XM_047429938.1:c.666G>A, XM_047429938.1:c.666G>T, XM_047429940.1:c.666G>A, XM_047429940.1:c.666G>T, XM_047429941.1:c.666G>A, XM_047429941.1:c.666G>T, XM_047429939.1:c.666G>A, XM_047429939.1:c.666G>T, XM_047429942.1:c.666G>A, XM_047429942.1:c.666G>T

Select item 147773075510.

rs1477730755 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCT>- [Show Flanks]
Chromosome:: 12:120575676 (GRCh38)
12:121013479 (GRCh37)
Canonical SPDI:: NC_000012.12:120575673:CTGCT:CT
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120575676_120575678del, NC_000012.11:g.121013479_121013481del, NM_014868.5:c.2188_2190del, NM_014868.4:c.2188_2190del, XM_005254013.3:c.2053_2055del, XM_005254013.2:c.2053_2055del, XM_005254013.1:c.2053_2055del, XM_017020282.2:c.2038_2040del, XM_017020282.1:c.2038_2040del, NM_001330474.2:c.2203_2205del, NM_001330474.1:c.2203_2205del, XM_047429937.1:c.2222_2224del, XM_047429938.1:c.2207_2209del, XM_047429940.1:c.2102_2104del, XM_047429941.1:c.2087_2089del, NP_055683.3:p.Ala730del, XP_005254070.1:p.Ala685del, XP_016875771.1:p.Ala680del, NP_001317403.1:p.Ala735del, XP_047285893.1:p.Cys741del, XP_047285894.1:p.Cys736del, XP_047285896.1:p.Cys701del, XP_047285897.1:p.Cys696del

Select item 147705836111.

rs1477058361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:120560772 (GRCh38)
12:120998575 (GRCh37)
Canonical SPDI:: NC_000012.12:120560771:G:T
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120560772G>T, NC_000012.11:g.120998575G>T, NM_014868.5:c.1014G>T, NM_014868.4:c.1014G>T, XM_005254013.3:c.864G>T, XM_005254013.2:c.864G>T, XM_005254013.1:c.864G>T, XM_017020283.3:c.1014G>T, XM_017020283.2:c.1014G>T, XM_017020283.1:c.1014G>T, XM_017020282.2:c.864G>T, XM_017020282.1:c.864G>T, NM_001330474.2:c.1014G>T, NM_001330474.1:c.1014G>T, XM_047429937.1:c.1014G>T, XM_047429938.1:c.1014G>T, XM_047429940.1:c.1014G>T, XM_047429941.1:c.1014G>T, XM_047429939.1:c.1014G>T, XM_047429942.1:c.1014G>T, NP_055683.3:p.Glu338Asp, XP_005254070.1:p.Glu288Asp, XP_016875772.1:p.Glu338Asp, XP_016875771.1:p.Glu288Asp, NP_001317403.1:p.Glu338Asp, XP_047285893.1:p.Glu338Asp, XP_047285894.1:p.Glu338Asp, XP_047285896.1:p.Glu338Asp, XP_047285897.1:p.Glu338Asp, XP_047285895.1:p.Glu338Asp, XP_047285898.1:p.Glu338Asp

Select item 147604853312.

rs1476048533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120565182 (GRCh38)
12:121002985 (GRCh37)
Canonical SPDI:: NC_000012.12:120565181:G:A
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120565182G>A, NC_000012.11:g.121002985G>A, NM_014868.5:c.1776G>A, NM_014868.4:c.1776G>A, XM_005254013.3:c.1641G>A, XM_005254013.2:c.1641G>A, XM_005254013.1:c.1641G>A, XM_017020283.3:c.1791G>A, XM_017020283.2:c.1791G>A, XM_017020283.1:c.1791G>A, XM_017020282.2:c.1626G>A, XM_017020282.1:c.1626G>A, NM_001330474.2:c.1791G>A, NM_001330474.1:c.1791G>A, XM_047429937.1:c.1791G>A, XM_047429938.1:c.1776G>A, XM_047429940.1:c.1791G>A, XM_047429941.1:c.1776G>A, XM_047429939.1:c.1791G>A, XM_047429942.1:c.1791G>A, NP_055683.3:p.Met592Ile, XP_005254070.1:p.Met547Ile, XP_016875772.1:p.Met597Ile, XP_016875771.1:p.Met542Ile, NP_001317403.1:p.Met597Ile, XP_047285893.1:p.Met597Ile, XP_047285894.1:p.Met592Ile, XP_047285896.1:p.Met597Ile, XP_047285897.1:p.Met592Ile, XP_047285895.1:p.Met597Ile, XP_047285898.1:p.Met597Ile

Select item 147421180213.

rs1474211802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:120546545 (GRCh38)
12:120984348 (GRCh37)
Canonical SPDI:: NC_000012.12:120546544:G:T
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.120546545G>T, NC_000012.11:g.120984348G>T, NM_014868.5:c.298G>T, NM_014868.4:c.298G>T, XM_005254013.3:c.148G>T, XM_005254013.2:c.148G>T, XM_005254013.1:c.148G>T, XM_017020283.3:c.298G>T, XM_017020283.2:c.298G>T, XM_017020283.1:c.298G>T, XM_017020282.2:c.148G>T, XM_017020282.1:c.148G>T, NM_001330474.2:c.298G>T, NM_001330474.1:c.298G>T, XM_047429937.1:c.298G>T, XM_047429938.1:c.298G>T, XM_047429940.1:c.298G>T, XM_047429941.1:c.298G>T, XM_047429939.1:c.298G>T, XM_047429942.1:c.298G>T, NP_055683.3:p.Gly100Cys, XP_005254070.1:p.Gly50Cys, XP_016875772.1:p.Gly100Cys, XP_016875771.1:p.Gly50Cys, NP_001317403.1:p.Gly100Cys, XP_047285893.1:p.Gly100Cys, XP_047285894.1:p.Gly100Cys, XP_047285896.1:p.Gly100Cys, XP_047285897.1:p.Gly100Cys, XP_047285895.1:p.Gly100Cys, XP_047285898.1:p.Gly100Cys

Select item 147408558614.

rs1474085586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120571205 (GRCh38)
12:121009008 (GRCh37)
Canonical SPDI:: NC_000012.12:120571204:C:T
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.120571205C>T, NC_000012.11:g.121009008C>T, NM_014868.5:c.2056C>T, NM_014868.4:c.2056C>T, XM_005254013.3:c.1921C>T, XM_005254013.2:c.1921C>T, XM_005254013.1:c.1921C>T, XM_017020283.3:c.2090C>T, XM_017020283.2:c.2090C>T, XM_017020283.1:c.2090C>T, XM_017020282.2:c.1906C>T, XM_017020282.1:c.1906C>T, NM_001330474.2:c.2071C>T, NM_001330474.1:c.2071C>T, XM_047429937.1:c.2090C>T, XM_047429938.1:c.2075C>T, XM_047429939.1:c.2071C>T, NP_055683.3:p.Pro686Ser, XP_005254070.1:p.Pro641Ser, XP_016875772.1:p.Pro697Leu, XP_016875771.1:p.Pro636Ser, NP_001317403.1:p.Pro691Ser, XP_047285893.1:p.Pro697Leu, XP_047285894.1:p.Pro692Leu, XP_047285895.1:p.Pro691Ser

Select item 147055894315.

rs1470558943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:120563557 (GRCh38)
12:121001360 (GRCh37)
Canonical SPDI:: NC_000012.12:120563556:C:T
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.120563557C>T, NC_000012.11:g.121001360C>T, NM_014868.5:c.1465C>T, NM_014868.4:c.1465C>T, XM_005254013.3:c.1330C>T, XM_005254013.2:c.1330C>T, XM_005254013.1:c.1330C>T, XM_017020283.3:c.1480C>T, XM_017020283.2:c.1480C>T, XM_017020283.1:c.1480C>T, XM_017020282.2:c.1315C>T, XM_017020282.1:c.1315C>T, NM_001330474.2:c.1480C>T, NM_001330474.1:c.1480C>T, XM_047429937.1:c.1480C>T, XM_047429938.1:c.1465C>T, XM_047429940.1:c.1480C>T, XM_047429941.1:c.1465C>T, XM_047429939.1:c.1480C>T, XM_047429942.1:c.1480C>T, NP_055683.3:p.Gln489Ter, XP_005254070.1:p.Gln444Ter, XP_016875772.1:p.Gln494Ter, XP_016875771.1:p.Gln439Ter, NP_001317403.1:p.Gln494Ter, XP_047285893.1:p.Gln494Ter, XP_047285894.1:p.Gln489Ter, XP_047285896.1:p.Gln494Ter, XP_047285897.1:p.Gln489Ter, XP_047285895.1:p.Gln494Ter, XP_047285898.1:p.Gln494Ter

Select item 147000186216.

rs1470001862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:120557666 (GRCh38)
12:120995469 (GRCh37)
Canonical SPDI:: NC_000012.12:120557665:T:C
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.120557666T>C, NC_000012.11:g.120995469T>C, NM_014868.5:c.951T>C, NM_014868.4:c.951T>C, XM_005254013.3:c.801T>C, XM_005254013.2:c.801T>C, XM_005254013.1:c.801T>C, XM_017020283.3:c.951T>C, XM_017020283.2:c.951T>C, XM_017020283.1:c.951T>C, XM_017020282.2:c.801T>C, XM_017020282.1:c.801T>C, NM_001330474.2:c.951T>C, NM_001330474.1:c.951T>C, XM_047429937.1:c.951T>C, XM_047429938.1:c.951T>C, XM_047429940.1:c.951T>C, XM_047429941.1:c.951T>C, XM_047429939.1:c.951T>C, XM_047429942.1:c.951T>C

Select item 146970024317.

rs1469700243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:120563013 (GRCh38)
12:121000816 (GRCh37)
Canonical SPDI:: NC_000012.12:120563012:G:A
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120563013G>A, NC_000012.11:g.121000816G>A, NM_014868.5:c.1197G>A, NM_014868.4:c.1197G>A, XM_005254013.3:c.1047G>A, XM_005254013.2:c.1047G>A, XM_005254013.1:c.1047G>A, XM_017020283.3:c.1197G>A, XM_017020283.2:c.1197G>A, XM_017020283.1:c.1197G>A, XM_017020282.2:c.1047G>A, XM_017020282.1:c.1047G>A, NM_001330474.2:c.1197G>A, NM_001330474.1:c.1197G>A, XM_047429937.1:c.1197G>A, XM_047429938.1:c.1197G>A, XM_047429940.1:c.1197G>A, XM_047429941.1:c.1197G>A, XM_047429939.1:c.1197G>A, XM_047429942.1:c.1197G>A

Select item 146872946218.

rs1468729462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:120563002 (GRCh38)
12:121000805 (GRCh37)
Canonical SPDI:: NC_000012.12:120563001:G:C
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.120563002G>C, NC_000012.11:g.121000805G>C, NM_014868.5:c.1186G>C, NM_014868.4:c.1186G>C, XM_005254013.3:c.1036G>C, XM_005254013.2:c.1036G>C, XM_005254013.1:c.1036G>C, XM_017020283.3:c.1186G>C, XM_017020283.2:c.1186G>C, XM_017020283.1:c.1186G>C, XM_017020282.2:c.1036G>C, XM_017020282.1:c.1036G>C, NM_001330474.2:c.1186G>C, NM_001330474.1:c.1186G>C, XM_047429937.1:c.1186G>C, XM_047429938.1:c.1186G>C, XM_047429940.1:c.1186G>C, XM_047429941.1:c.1186G>C, XM_047429939.1:c.1186G>C, XM_047429942.1:c.1186G>C, NP_055683.3:p.Val396Leu, XP_005254070.1:p.Val346Leu, XP_016875772.1:p.Val396Leu, XP_016875771.1:p.Val346Leu, NP_001317403.1:p.Val396Leu, XP_047285893.1:p.Val396Leu, XP_047285894.1:p.Val396Leu, XP_047285896.1:p.Val396Leu, XP_047285897.1:p.Val396Leu, XP_047285895.1:p.Val396Leu, XP_047285898.1:p.Val396Leu

Select item 146847860219.

rs1468478602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120565428 (GRCh38)
12:121003231 (GRCh37)
Canonical SPDI:: NC_000012.12:120565427:A:G
Gene:: RNF10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120565428A>G, NC_000012.11:g.121003231A>G, NM_014868.5:c.1784A>G, NM_014868.4:c.1784A>G, XM_005254013.3:c.1649A>G, XM_005254013.2:c.1649A>G, XM_005254013.1:c.1649A>G, XM_017020283.3:c.1799A>G, XM_017020283.2:c.1799A>G, XM_017020283.1:c.1799A>G, XM_017020282.2:c.1634A>G, XM_017020282.1:c.1634A>G, NM_001330474.2:c.1799A>G, NM_001330474.1:c.1799A>G, XM_047429937.1:c.1799A>G, XM_047429938.1:c.1784A>G, XM_047429940.1:c.1799A>G, XM_047429941.1:c.1784A>G, XM_047429939.1:c.1799A>G, XM_047429942.1:c.1799A>G, NP_055683.3:p.Asp595Gly, XP_005254070.1:p.Asp550Gly, XP_016875772.1:p.Asp600Gly, XP_016875771.1:p.Asp545Gly, NP_001317403.1:p.Asp600Gly, XP_047285893.1:p.Asp600Gly, XP_047285894.1:p.Asp595Gly, XP_047285896.1:p.Asp600Gly, XP_047285897.1:p.Asp595Gly, XP_047285895.1:p.Asp600Gly, XP_047285898.1:p.Asp600Gly

Select item 146681595120.

rs1466815951 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:120575839 (GRCh38)
12:121013642 (GRCh37)
Canonical SPDI:: NC_000012.12:120575838:A:G
Gene:: RNF10 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.120575839A>G, NC_000012.11:g.121013642A>G, NM_014868.5:c.2248A>G, NM_014868.4:c.2248A>G, XM_005254013.3:c.2113A>G, XM_005254013.2:c.2113A>G, XM_005254013.1:c.2113A>G, XM_017020282.2:c.2098A>G, XM_017020282.1:c.2098A>G, NM_001330474.2:c.2263A>G, NM_001330474.1:c.2263A>G, XM_047429937.1:c.*44A>G, XM_047429938.1:c.*44A>G, XM_047429940.1:c.*44A>G, XM_047429941.1:c.*44A>G, NP_055683.3:p.Ser750Gly, XP_005254070.1:p.Ser705Gly, XP_016875771.1:p.Ser700Gly, NP_001317403.1:p.Ser755Gly

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 802

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 802

Page of 41

Page of 41

Display Settings:

Supplemental Content

Find related data

Recent activity