SNP Links for Protein (Select 282847457) - SNP

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Links from Protein

Items: 1 to 20 of 67

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Select item 14766944371.

rs1476694437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:98064678 (GRCh38)
8:99076906 (GRCh37)
Canonical SPDI:: NC_000008.11:98064677:C:T
Gene:: ERICH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.98064678C>T, NC_000008.10:g.99076906C>T, NM_173549.3:c.9C>T, NM_173549.2:c.9C>T, NM_001170806.2:c.9C>T, NM_001170806.1:c.9C>T

Select item 14705284132.

rs1470528413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:98064684 (GRCh38)
8:99076912 (GRCh37)
Canonical SPDI:: NC_000008.11:98064683:C:T
Gene:: ERICH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000008.11:g.98064684C>T, NC_000008.10:g.99076912C>T, NM_173549.3:c.15C>T, NM_173549.2:c.15C>T, NM_001170806.2:c.15C>T, NM_001170806.1:c.15C>T

Select item 14699990123.

rs1469999012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:98093221 (GRCh38)
8:99105449 (GRCh37)
Canonical SPDI:: NC_000008.11:98093220:G:A,NC_000008.11:98093220:G:C
Gene:: ERICH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000008.11:g.98093221G>A, NC_000008.11:g.98093221G>C, NC_000008.10:g.99105449G>A, NC_000008.10:g.99105449G>C, NM_173549.3:c.1013G>A, NM_173549.3:c.1013G>C, NM_173549.2:c.1013G>A, NM_173549.2:c.1013G>C, NM_001170806.2:c.59G>A, NM_001170806.2:c.59G>C, NM_001170806.1:c.59G>A, NM_001170806.1:c.59G>C, NP_775820.2:p.Gly338Asp, NP_775820.2:p.Gly338Ala, NP_001164277.1:p.Gly20Asp, NP_001164277.1:p.Gly20Ala

Select item 14646830824.

rs1464683082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:98093265 (GRCh38)
8:99105493 (GRCh37)
Canonical SPDI:: NC_000008.11:98093264:G:A
Gene:: ERICH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.98093265G>A, NC_000008.10:g.99105493G>A, NM_173549.3:c.1057G>A, NM_173549.2:c.1057G>A, NM_001170806.2:c.103G>A, NM_001170806.1:c.103G>A, NP_775820.2:p.Val353Met, NP_001164277.1:p.Val35Met

Select item 14343719495.

rs1434371949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:98064701 (GRCh38)
8:99076929 (GRCh37)
Canonical SPDI:: NC_000008.11:98064700:C:T
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000064/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98064701C>T, NC_000008.10:g.99076929C>T, NM_173549.3:c.32C>T, NM_173549.2:c.32C>T, NM_001170806.2:c.32C>T, NM_001170806.1:c.32C>T, NP_775820.2:p.Ala11Val, NP_001164277.1:p.Ala11Val

Select item 14291684886.

rs1429168488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:98064681 (GRCh38)
8:99076909 (GRCh37)
Canonical SPDI:: NC_000008.11:98064680:C:T
Gene:: ERICH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98064681C>T, NC_000008.10:g.99076909C>T, NM_173549.3:c.12C>T, NM_173549.2:c.12C>T, NM_001170806.2:c.12C>T, NM_001170806.1:c.12C>T

Select item 14106807067.

rs1410680706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:98093306 (GRCh38)
8:99105534 (GRCh37)
Canonical SPDI:: NC_000008.11:98093305:A:G
Gene:: ERICH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.98093306A>G, NC_000008.10:g.99105534A>G, NM_173549.3:c.1098A>G, NM_173549.2:c.1098A>G, NM_001170806.2:c.144A>G, NM_001170806.1:c.144A>G

Select item 14047892508.

rs1404789250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:98093259 (GRCh38)
8:99105487 (GRCh37)
Canonical SPDI:: NC_000008.11:98093258:G:A
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98093259G>A, NC_000008.10:g.99105487G>A, NM_173549.3:c.1051G>A, NM_173549.2:c.1051G>A, NM_001170806.2:c.97G>A, NM_001170806.1:c.97G>A, NP_775820.2:p.Glu351Lys, NP_001164277.1:p.Glu33Lys

Select item 13867971689.

rs1386797168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:98064693 (GRCh38)
8:99076921 (GRCh37)
Canonical SPDI:: NC_000008.11:98064692:C:T
Gene:: ERICH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98064693C>T, NC_000008.10:g.99076921C>T, NM_173549.3:c.24C>T, NM_173549.2:c.24C>T, NM_001170806.2:c.24C>T, NM_001170806.1:c.24C>T

Select item 138394268310.

rs1383942683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:98093314 (GRCh38)
8:99105542 (GRCh37)
Canonical SPDI:: NC_000008.11:98093313:A:C,NC_000008.11:98093313:A:G
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.002729/5 (Korea1K)
HGVS:: NC_000008.11:g.98093314A>C, NC_000008.11:g.98093314A>G, NC_000008.10:g.99105542A>C, NC_000008.10:g.99105542A>G, NM_173549.3:c.1106A>C, NM_173549.3:c.1106A>G, NM_173549.2:c.1106A>C, NM_173549.2:c.1106A>G, NM_001170806.2:c.152A>C, NM_001170806.2:c.152A>G, NM_001170806.1:c.152A>C, NM_001170806.1:c.152A>G, NP_775820.2:p.Asp369Ala, NP_775820.2:p.Asp369Gly, NP_001164277.1:p.Asp51Ala, NP_001164277.1:p.Asp51Gly

Select item 138180518111.

rs1381805181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:98064696 (GRCh38)
8:99076924 (GRCh37)
Canonical SPDI:: NC_000008.11:98064695:C:A
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98064696C>A, NC_000008.10:g.99076924C>A, NM_173549.3:c.27C>A, NM_173549.2:c.27C>A, NM_001170806.2:c.27C>A, NM_001170806.1:c.27C>A, NP_775820.2:p.Asn9Lys, NP_001164277.1:p.Asn9Lys

Select item 137000664412.

rs1370006644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:98093268 (GRCh38)
8:99105496 (GRCh37)
Canonical SPDI:: NC_000008.11:98093267:A:G
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98093268A>G, NC_000008.10:g.99105496A>G, NM_173549.3:c.1060A>G, NM_173549.2:c.1060A>G, NM_001170806.2:c.106A>G, NM_001170806.1:c.106A>G, NP_775820.2:p.Ser354Gly, NP_001164277.1:p.Ser36Gly

Select item 136424898913.

rs1364248989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:98093254 (GRCh38)
8:99105482 (GRCh37)
Canonical SPDI:: NC_000008.11:98093253:A:C,NC_000008.11:98093253:A:G
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.98093254A>C, NC_000008.11:g.98093254A>G, NC_000008.10:g.99105482A>C, NC_000008.10:g.99105482A>G, NM_173549.3:c.1046A>C, NM_173549.3:c.1046A>G, NM_173549.2:c.1046A>C, NM_173549.2:c.1046A>G, NM_001170806.2:c.92A>C, NM_001170806.2:c.92A>G, NM_001170806.1:c.92A>C, NM_001170806.1:c.92A>G, NP_775820.2:p.Glu349Ala, NP_775820.2:p.Glu349Gly, NP_001164277.1:p.Glu31Ala, NP_001164277.1:p.Glu31Gly

Select item 135456711114.

rs1354567111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:98093276 (GRCh38)
8:99105504 (GRCh37)
Canonical SPDI:: NC_000008.11:98093275:G:A
Gene:: ERICH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98093276G>A, NC_000008.10:g.99105504G>A, NM_173549.3:c.1068G>A, NM_173549.2:c.1068G>A, NM_001170806.2:c.114G>A, NM_001170806.1:c.114G>A

Select item 132903416815.

rs1329034168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:98064717 (GRCh38)
8:99076945 (GRCh37)
Canonical SPDI:: NC_000008.11:98064716:G:T
Gene:: ERICH5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000008.11:g.98064717G>T, NC_000008.10:g.99076945G>T, NM_173549.3:c.48G>T, NM_173549.2:c.48G>T, NM_001170806.2:c.48G>T, NM_001170806.1:c.48G>T, NP_775820.2:p.Arg16Ser, NP_001164277.1:p.Arg16Ser

Select item 132823382216.

rs1328233822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:98064699 (GRCh38)
8:99076927 (GRCh37)
Canonical SPDI:: NC_000008.11:98064698:G:A
Gene:: ERICH5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98064699G>A, NC_000008.10:g.99076927G>A, NM_173549.3:c.30G>A, NM_173549.2:c.30G>A, NM_001170806.2:c.30G>A, NM_001170806.1:c.30G>A

Select item 129615125117.

rs1296151251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:98093318 (GRCh38)
8:99105546 (GRCh37)
Canonical SPDI:: NC_000008.11:98093317:T:C
Gene:: ERICH5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.98093318T>C, NC_000008.10:g.99105546T>C, NM_173549.3:c.1110T>C, NM_173549.2:c.1110T>C, NM_001170806.2:c.156T>C, NM_001170806.1:c.156T>C

Select item 129443274918.

rs1294432749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:98093264 (GRCh38)
8:99105492 (GRCh37)
Canonical SPDI:: NC_000008.11:98093263:A:C
Gene:: ERICH5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.98093264A>C, NC_000008.10:g.99105492A>C, NM_173549.3:c.1056A>C, NM_173549.2:c.1056A>C, NM_001170806.2:c.102A>C, NM_001170806.1:c.102A>C, NP_775820.2:p.Lys352Asn, NP_001164277.1:p.Lys34Asn

Select item 128814623519.

rs1288146235 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 8:98093295 (GRCh38)
8:99105523 (GRCh37)
Canonical SPDI:: NC_000008.11:98093286:AAGAAGAAGAA:AAGAAGAA
Gene:: ERICH5 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAGAA=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.98093289GAA[2], NC_000008.10:g.99105517GAA[2], NM_173549.3:c.1081GAA[2], NM_173549.2:c.1081GAA[2], NM_001170806.2:c.127GAA[2], NM_001170806.1:c.127GAA[2], NP_775820.2:p.Glu363del, NP_001164277.1:p.Glu45del