Linked Data
ClinVar Variation Id:
576621
ClinVar RCV Id:
RCV001824365
dbSNP Id:
rs779554274
ExAC:
1:218610779 G / A
gnomAD v2:
1-218610779-G-A
gnomAD v4:
1-218437437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437437G>A , CM000663.2:g.218437437G>A | GRCh38 |
| NC_000001.10:g.218610779G>A , CM000663.1:g.218610779G>A | GRCh37 |
| NC_000001.9:g.216677402G>A | NCBI36 |
| NG_027721.1:g.97104G>A | |
| NG_027721.2:g.97104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.1027G>A MANE Select | ENSP00000355897.4:p.Ala343Thr | |
| ENST00000366929.4:c.1111G>A | ENSP00000355896.4:p.Ala371Thr | |
| ENST00000366930.8:c.1027G>A | ENSP00000355897.4:p.Ala343Thr | |
| ENST00000479322.1:n.511G>A | ||
| NM_001135599.2:c.1111G>A | NP_001129071.1:p.Ala371Thr | |
| NM_003238.3:c.1027G>A | NP_003229.1:p.Ala343Thr | |
| NM_001135599.3:c.1111G>A | NP_001129071.1:p.Ala371Thr | |
| NM_003238.4:c.1027G>A | NP_003229.1:p.Ala343Thr | |
| NR_138148.1:n.2330G>A | ||
| NR_138149.1:n.2414G>A | ||
| NM_003238.5:c.1027G>A | NP_003229.1:p.Ala343Thr | |
| NM_003238.6:c.1027G>A MANE Select | NP_003229.1:p.Ala343Thr | |
| NM_001135599.4:c.1111G>A | NP_001129071.1:p.Ala371Thr | |
| NR_138148.2:n.2278G>A | ||
| NR_138149.2:n.2362G>A |