Linked Data
ClinVar Variation Id:
842350
ClinVar RCV Id:
RCV001044755
dbSNP Id:
rs780315709
ExAC:
3:38793936 G / A
gnomAD v2:
3-38793936-G-A
gnomAD v3:
3-38752445-G-A
gnomAD v4:
3-38752445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752445G>A , CM000665.2:g.38752445G>A | GRCh38 |
| NC_000003.11:g.38793936G>A , CM000665.1:g.38793936G>A | GRCh37 |
| NC_000003.10:g.38768940G>A | NCBI36 |
| NG_031891.2:g.46566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1529C>T MANE Select | ENSP00000390600.2:p.Pro510Leu | |
| ENST00000643924.1:c.1529C>T | ENSP00000495595.1:p.Pro510Leu | |
| ENST00000655275.1:c.1556C>T | ENSP00000499510.1:p.Pro519Leu | |
| ENST00000449082.2:c.1529C>T | ENSP00000390600.2:p.Pro510Leu | |
| NM_001293306.2:c.1529C>T | NP_001280235.2:p.Pro510Leu | |
| NM_001293307.2:c.1462-2261C>T | NP_001280236.2:n.1462-2261C>T | |
| NM_006514.3:c.1529C>T | NP_006505.3:p.Pro510Leu | |
| XM_005265371.2:c.1538C>T | XP_005265428.1:p.Pro513Leu | |
| XM_011533993.1:c.1538C>T | XP_011532295.1:p.Pro513Leu | |
| XM_011533994.1:c.1471-2261C>T | XP_011532296.1:n.1471-2261C>T | |
| XM_005265371.3:c.1538C>T | XP_005265428.1:p.Pro513Leu | |
| XM_011533993.2:c.1538C>T | XP_011532295.1:p.Pro513Leu | |
| XM_011533994.2:c.1471-2261C>T | XP_011532296.1:n.1471-2261C>T | |
| NM_006514.4:c.1529C>T MANE Select | NP_006505.4:p.Pro510Leu |