SNP Links for Protein (Select 74099697) - SNP

Links from Protein

Items: 1 to 20 of 113

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Select item 14820332021.

rs1482033202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101412774 (GRCh38)
X:100667762 (GRCh37)
Canonical SPDI:: NC_000023.11:101412773:A:G
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.101412774A>G, NC_000023.10:g.100667762A>G, NG_007119.1:g.190T>C, NG_016327.1:g.9572A>G, NM_019597.5:c.786A>G, NM_019597.4:c.786A>G, NM_001032393.3:c.786A>G, NM_001032393.2:c.786A>G, NW_004070883.1:g.94450A>G, NM_001199973.2:c.*782A>G, NM_001199973.1:c.*782A>G, NM_001199974.2:c.*782A>G, NM_001199974.1:c.*782A>G

Select item 14820022302.

rs1482002230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101412551 (GRCh38)
X:100667539 (GRCh37)
Canonical SPDI:: NC_000023.11:101412550:G:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.101412551G>A, NC_000023.10:g.100667539G>A, NG_007119.1:g.413C>T, NG_016327.1:g.9349G>A, NM_019597.5:c.563G>A, NM_019597.4:c.563G>A, NM_001032393.3:c.563G>A, NM_001032393.2:c.563G>A, NW_004070883.1:g.94227G>A, NM_001199973.2:c.*559G>A, NM_001199973.1:c.*559G>A, NM_001199974.2:c.*559G>A, NM_001199974.1:c.*559G>A, NP_062543.1:p.Arg188Gln, NP_001027565.1:p.Arg188Gln

Select item 14784542633.

rs1478454263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:101412739 (GRCh38)
X:100667727 (GRCh37)
Canonical SPDI:: NC_000023.11:101412738:G:C
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101412739G>C, NC_000023.10:g.100667727G>C, NG_007119.1:g.225C>G, NG_016327.1:g.9537G>C, NM_019597.5:c.751G>C, NM_019597.4:c.751G>C, NM_001032393.3:c.751G>C, NM_001032393.2:c.751G>C, NW_004070883.1:g.94415G>C, NM_001199973.2:c.*747G>C, NM_001199973.1:c.*747G>C, NM_001199974.2:c.*747G>C, NM_001199974.1:c.*747G>C, NP_062543.1:p.Asp251His, NP_001027565.1:p.Asp251His

Select item 14723359294.

rs1472335929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:101413133 (GRCh38)
X:100668121 (GRCh37)
Canonical SPDI:: NC_000023.11:101413132:A:C
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.101413133A>C, NC_000023.10:g.100668121A>C, NG_016327.1:g.9931A>C, NM_019597.5:c.1145A>C, NM_019597.4:c.1145A>C, NM_001032393.3:c.1145A>C, NM_001032393.2:c.1145A>C, NW_004070883.1:g.94809A>C, NM_001199973.2:c.*1141A>C, NM_001199973.1:c.*1141A>C, NM_001199974.2:c.*1141A>C, NM_001199974.1:c.*1141A>C, NP_062543.1:p.Asn382Thr, NP_001027565.1:p.Asn382Thr

Select item 14616004605.

rs1461600460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101413202 (GRCh38)
X:100668190 (GRCh37)
Canonical SPDI:: NC_000023.11:101413201:A:G
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101413202A>G, NC_000023.10:g.100668190A>G, NG_016327.1:g.10000A>G, NM_019597.5:c.1214A>G, NM_019597.4:c.1214A>G, NM_001032393.3:c.1214A>G, NM_001032393.2:c.1214A>G, NW_004070883.1:g.94878A>G, NM_001199973.2:c.*1210A>G, NM_001199973.1:c.*1210A>G, NM_001199974.2:c.*1210A>G, NM_001199974.1:c.*1210A>G, NP_062543.1:p.Gln405Arg, NP_001027565.1:p.Gln405Arg

Select item 14449506546.

rs1444950654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:101413015 (GRCh38)
X:100668003 (GRCh37)
Canonical SPDI:: NC_000023.11:101413014:G:T
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101413015G>T, NC_000023.10:g.100668003G>T, NG_016327.1:g.9813G>T, NM_019597.5:c.1027G>T, NM_019597.4:c.1027G>T, NM_001032393.3:c.1027G>T, NM_001032393.2:c.1027G>T, NW_004070883.1:g.94691G>T, NM_001199973.2:c.*1023G>T, NM_001199973.1:c.*1023G>T, NM_001199974.2:c.*1023G>T, NM_001199974.1:c.*1023G>T, NP_062543.1:p.Ala343Ser, NP_001027565.1:p.Ala343Ser

Select item 14393881267.

rs1439388126 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101412870 (GRCh38)
X:100667858 (GRCh37)
Canonical SPDI:: NC_000023.11:101412869:G:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101412870G>A, NC_000023.10:g.100667858G>A, NG_007119.1:g.94C>T, NG_016327.1:g.9668G>A, NM_019597.5:c.882G>A, NM_019597.4:c.882G>A, NM_001032393.3:c.882G>A, NM_001032393.2:c.882G>A, NW_004070883.1:g.94546G>A, NM_001199973.2:c.*878G>A, NM_001199973.1:c.*878G>A, NM_001199974.2:c.*878G>A, NM_001199974.1:c.*878G>A

Select item 14234737048.

rs1423473704 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:101412732 (GRCh38)
X:100667720 (GRCh37)
Canonical SPDI:: NC_000023.11:101412731:C:G,NC_000023.11:101412731:C:T
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
G=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.101412732C>G, NC_000023.11:g.101412732C>T, NC_000023.10:g.100667720C>G, NC_000023.10:g.100667720C>T, NG_007119.1:g.232G>C, NG_007119.1:g.232G>A, NG_016327.1:g.9530C>G, NG_016327.1:g.9530C>T, NM_019597.5:c.744C>G, NM_019597.5:c.744C>T, NM_019597.4:c.744C>G, NM_019597.4:c.744C>T, NM_001032393.3:c.744C>G, NM_001032393.3:c.744C>T, NM_001032393.2:c.744C>G, NM_001032393.2:c.744C>T, NW_004070883.1:g.94408C>G, NW_004070883.1:g.94408C>T, NM_001199973.2:c.*740C>G, NM_001199973.2:c.*740C>T, NM_001199973.1:c.*740C>G, NM_001199973.1:c.*740C>T, NM_001199974.2:c.*740C>G, NM_001199974.2:c.*740C>T, NM_001199974.1:c.*740C>G, NM_001199974.1:c.*740C>T

Select item 14120527679.

rs1412052767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101412719 (GRCh38)
X:100667707 (GRCh37)
Canonical SPDI:: NC_000023.11:101412718:A:G
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.101412719A>G, NC_000023.10:g.100667707A>G, NG_007119.1:g.245T>C, NG_016327.1:g.9517A>G, NM_019597.5:c.731A>G, NM_019597.4:c.731A>G, NM_001032393.3:c.731A>G, NM_001032393.2:c.731A>G, NW_004070883.1:g.94395A>G, NM_001199973.2:c.*727A>G, NM_001199973.1:c.*727A>G, NM_001199974.2:c.*727A>G, NM_001199974.1:c.*727A>G, NP_062543.1:p.Asp244Gly, NP_001027565.1:p.Asp244Gly

Select item 140848087410.

rs1408480874 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:101413092 (GRCh38)
X:100668080 (GRCh37)
Canonical SPDI:: NC_000023.11:101413091:T:C,NC_000023.11:101413091:T:G
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.101413092T>C, NC_000023.11:g.101413092T>G, NC_000023.10:g.100668080T>C, NC_000023.10:g.100668080T>G, NG_016327.1:g.9890T>C, NG_016327.1:g.9890T>G, NM_019597.5:c.1104T>C, NM_019597.5:c.1104T>G, NM_019597.4:c.1104T>C, NM_019597.4:c.1104T>G, NM_001032393.3:c.1104T>C, NM_001032393.3:c.1104T>G, NM_001032393.2:c.1104T>C, NM_001032393.2:c.1104T>G, NW_004070883.1:g.94768T>C, NW_004070883.1:g.94768T>G, NM_001199973.2:c.*1100T>C, NM_001199973.2:c.*1100T>G, NM_001199973.1:c.*1100T>C, NM_001199973.1:c.*1100T>G, NM_001199974.2:c.*1100T>C, NM_001199974.2:c.*1100T>G, NM_001199974.1:c.*1100T>C, NM_001199974.1:c.*1100T>G, NP_062543.1:p.Ser368Arg, NP_001027565.1:p.Ser368Arg

Select item 138997298811.

rs1389972988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:101412372 (GRCh38)
X:100667360 (GRCh37)
Canonical SPDI:: NC_000023.11:101412371:T:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101412372T>A, NC_000023.10:g.100667360T>A, NG_007119.1:g.592A>T, NG_016327.1:g.9170T>A, NM_019597.5:c.384T>A, NM_019597.4:c.384T>A, NM_001032393.3:c.384T>A, NM_001032393.2:c.384T>A, NW_004070883.1:g.94048T>A, NM_001199973.2:c.*380T>A, NM_001199973.1:c.*380T>A, NM_001199974.2:c.*380T>A, NM_001199974.1:c.*380T>A

Select item 138579411212.

rs1385794112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101412234 (GRCh38)
X:100667222 (GRCh37)
Canonical SPDI:: NC_000023.11:101412233:C:T
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00013/3 (ALFA)
T=0.000022/4 (GnomAD_exomes)
T=0.00006/16 (TOPMED)
T=0.000067/7 (GnomAD)
T=0.000684/2 (KOREAN)
HGVS:: NC_000023.11:g.101412234C>T, NC_000023.10:g.100667222C>T, NG_007119.1:g.730G>A, NG_016327.1:g.9032C>T, NM_019597.5:c.246C>T, NM_019597.4:c.246C>T, NM_001032393.3:c.246C>T, NM_001032393.2:c.246C>T, NW_004070883.1:g.93910C>T, NM_001199973.2:c.*242C>T, NM_001199973.1:c.*242C>T, NM_001199974.2:c.*242C>T, NM_001199974.1:c.*242C>T

Select item 137041547613.

rs1370415476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101412678 (GRCh38)
X:100667666 (GRCh37)
Canonical SPDI:: NC_000023.11:101412677:G:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.101412678G>A, NC_000023.10:g.100667666G>A, NG_007119.1:g.286C>T, NG_016327.1:g.9476G>A, NM_019597.5:c.690G>A, NM_019597.4:c.690G>A, NM_001032393.3:c.690G>A, NM_001032393.2:c.690G>A, NW_004070883.1:g.94354G>A, NM_001199973.2:c.*686G>A, NM_001199973.1:c.*686G>A, NM_001199974.2:c.*686G>A, NM_001199974.1:c.*686G>A

Select item 134563310114.

rs1345633101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101412637 (GRCh38)
X:100667625 (GRCh37)
Canonical SPDI:: NC_000023.11:101412636:A:G
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.101412637A>G, NC_000023.10:g.100667625A>G, NG_007119.1:g.327T>C, NG_016327.1:g.9435A>G, NM_019597.5:c.649A>G, NM_019597.4:c.649A>G, NM_001032393.3:c.649A>G, NM_001032393.2:c.649A>G, NW_004070883.1:g.94313A>G, NM_001199973.2:c.*645A>G, NM_001199973.1:c.*645A>G, NM_001199974.2:c.*645A>G, NM_001199974.1:c.*645A>G, NP_062543.1:p.Arg217Gly, NP_001027565.1:p.Arg217Gly

Select item 133386402015.

rs1333864020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:101413050 (GRCh38)
X:100668038 (GRCh37)
Canonical SPDI:: NC_000023.11:101413049:C:T
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.101413050C>T, NC_000023.10:g.100668038C>T, NG_016327.1:g.9848C>T, NM_019597.5:c.1062C>T, NM_019597.4:c.1062C>T, NM_001032393.3:c.1062C>T, NM_001032393.2:c.1062C>T, NW_004070883.1:g.94726C>T, NM_001199973.2:c.*1058C>T, NM_001199973.1:c.*1058C>T, NM_001199974.2:c.*1058C>T, NM_001199974.1:c.*1058C>T

Select item 133014055316.

rs1330140553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101412712 (GRCh38)
X:100667700 (GRCh37)
Canonical SPDI:: NC_000023.11:101412711:G:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101412712G>A, NC_000023.10:g.100667700G>A, NG_007119.1:g.252C>T, NG_016327.1:g.9510G>A, NM_019597.5:c.724G>A, NM_019597.4:c.724G>A, NM_001032393.3:c.724G>A, NM_001032393.2:c.724G>A, NW_004070883.1:g.94388G>A, NM_001199973.2:c.*720G>A, NM_001199973.1:c.*720G>A, NM_001199974.2:c.*720G>A, NM_001199974.1:c.*720G>A, NP_062543.1:p.Gly242Ser, NP_001027565.1:p.Gly242Ser

Select item 132790983217.

rs1327909832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:101413279 (GRCh38)
X:100668267 (GRCh37)
Canonical SPDI:: NC_000023.11:101413278:A:G
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.101413279A>G, NC_000023.10:g.100668267A>G, NG_017196.3:g.2A>G, NG_016327.1:g.10077A>G, NM_019597.5:c.1291A>G, NM_019597.4:c.1291A>G, NM_001032393.3:c.1291A>G, NM_001032393.2:c.1291A>G, NW_004070883.1:g.94955A>G, NM_001199973.2:c.*1287A>G, NM_001199973.1:c.*1287A>G, NM_001199974.2:c.*1287A>G, NM_001199974.1:c.*1287A>G, NP_062543.1:p.Ser431Gly, NP_001027565.1:p.Ser431Gly

Select item 132776712418.

rs1327767124 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:101412193 (GRCh38)
X:100667181 (GRCh37)
Canonical SPDI:: NC_000023.11:101412192:T:C
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.101412193T>C, NC_000023.10:g.100667181T>C, NG_007119.1:g.771A>G, NG_016327.1:g.8991T>C, NM_019597.5:c.205T>C, NM_019597.4:c.205T>C, NM_001032393.3:c.205T>C, NM_001032393.2:c.205T>C, NW_004070883.1:g.93869T>C, NM_001199973.2:c.*201T>C, NM_001199973.1:c.*201T>C, NM_001199974.2:c.*201T>C, NM_001199974.1:c.*201T>C

Select item 132373034519.

rs1323730345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101412933 (GRCh38)
X:100667921 (GRCh37)
Canonical SPDI:: NC_000023.11:101412932:G:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000016/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.101412933G>A, NC_000023.10:g.100667921G>A, NG_007119.1:g.31C>T, NG_016327.1:g.9731G>A, NM_019597.5:c.945G>A, NM_019597.4:c.945G>A, NM_001032393.3:c.945G>A, NM_001032393.2:c.945G>A, NW_004070883.1:g.94609G>A, NM_001199973.2:c.*941G>A, NM_001199973.1:c.*941G>A, NM_001199974.2:c.*941G>A, NM_001199974.1:c.*941G>A, NP_062543.1:p.Met315Ile, NP_001027565.1:p.Met315Ile

Select item 132117548920.

rs1321175489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:101412195 (GRCh38)
X:100667183 (GRCh37)
Canonical SPDI:: NC_000023.11:101412194:G:A
Gene:: HNRNPH2 (Varview), RPL36A-HNRNPH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.101412195G>A, NC_000023.10:g.100667183G>A, NG_007119.1:g.769C>T, NG_016327.1:g.8993G>A, NM_019597.5:c.207G>A, NM_019597.4:c.207G>A, NM_001032393.3:c.207G>A, NM_001032393.2:c.207G>A, NW_004070883.1:g.93871G>A, NM_001199973.2:c.*203G>A, NM_001199973.1:c.*203G>A, NM_001199974.2:c.*203G>A, NM_001199974.1:c.*203G>A

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