Linked Data
ClinVar Variation Id:
2124166
ClinVar RCV Id:
RCV003035780
dbSNP Id:
rs1429013604
gnomAD v2:
1-63090967-C-T
gnomAD v3:
1-62625296-C-T
gnomAD v4:
1-62625296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62625296C>T , CM000663.2:g.62625296C>T | GRCh38 |
| NC_000001.10:g.63090967C>T , CM000663.1:g.63090967C>T | GRCh37 |
| NC_000001.9:g.62863555C>T | NCBI36 |
| NG_033073.1:g.68073G>A | |
| NG_033073.2:g.68073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614472.5:c.1094G>A | ENSP00000483062.2:n.1094G>A | |
| ENST00000635253.2:c.1388G>A MANE Select | ENSP00000489124.1:p.Arg463Gln | |
| ENST00000637208.1:c.1388G>A | ENSP00000490079.1:p.Arg463Gln | |
| ENST00000251157.10:c.1388G>A | ENSP00000251157.6:p.Arg463Gln | |
| ENST00000340370.10:c.1388G>A | ENSP00000340742.5:p.Arg463Gln | |
| ENST00000404627.3:c.1388G>A | ENSP00000384446.2:p.Arg463Gln | |
| ENST00000454575.6:c.1388G>A | ENSP00000413583.2:p.Arg463Gln | |
| ENST00000464312.1:c.321G>A | ||
| ENST00000614472.4:c.1064G>A | ENSP00000483062.1:p.Arg355Gln | |
| ENST00000634264.1:c.1388G>A | ENSP00000489284.1:p.Arg463Gln | |
| ENST00000635123.1:c.1388G>A | ENSP00000489499.1:p.Arg463Gln | |
| ENST00000635253.1:c.1388G>A | ENSP00000489124.1:p.Arg463Gln | |
| NM_001271999.1:c.1388G>A | NP_001258928.1:p.Arg463Gln | |
| NM_001272000.1:c.1388G>A | NP_001258929.1:p.Arg463Gln | |
| NM_001272001.1:c.1388G>A | NP_001258930.1:p.Arg463Gln | |
| NM_001272002.1:c.1388G>A | NP_001258931.1:p.Arg463Gln | |
| NM_033407.3:c.1388G>A | NP_212132.2:p.Arg463Gln | |
| XM_005271292.1:c.1388G>A | XP_005271349.1:p.Arg463Gln | |
| XM_011542326.1:c.1388G>A | XP_011540628.1:p.Arg463Gln | |
| XM_011542327.1:c.1388G>A | XP_011540629.1:p.Arg463Gln | |
| XM_011542328.1:c.1388G>A | XP_011540630.1:p.Arg463Gln | |
| XM_011542329.1:c.1388G>A | XP_011540631.1:p.Arg463Gln | |
| XM_011542330.1:c.1388G>A | XP_011540632.1:p.Arg463Gln | |
| NM_001330614.1:c.1388G>A | NP_001317543.1:p.Arg463Gln | |
| XM_011542326.2:c.1388G>A | XP_011540628.1:p.Arg463Gln | |
| XM_011542327.2:c.1388G>A | XP_011540629.1:p.Arg463Gln | |
| XM_011542328.2:c.1388G>A | XP_011540630.1:p.Arg463Gln | |
| XM_011542330.2:c.1388G>A | XP_011540632.1:p.Arg463Gln | |
| XM_017002639.1:c.1388G>A | XP_016858128.1:p.Arg463Gln | |
| XM_017002640.1:c.1388G>A | XP_016858129.1:p.Arg463Gln | |
| NM_001367561.1:c.1388G>A MANE Select | NP_001354490.1:p.Arg463Gln | |
| NM_001272002.2:c.1388G>A | NP_001258931.1:p.Arg463Gln | |
| NM_001271999.2:c.1388G>A | NP_001258928.1:p.Arg463Gln | |
| NM_001272000.2:c.1388G>A | NP_001258929.1:p.Arg463Gln | |
| NM_001272001.2:c.1388G>A | NP_001258930.1:p.Arg463Gln | |
| NM_001330614.2:c.1388G>A | NP_001317543.1:p.Arg463Gln | |
| NM_033407.4:c.1388G>A | NP_212132.2:p.Arg463Gln |