Linked Data
ClinVar Variation Id:
14707
ClinVar RCV Id:
RCV000015822
RCV000175131
RCV000344820
RCV000445519
RCV000515071
RCV001132183
RCV001132184
RCV001258250
dbSNP Id:
rs1799816
ExAC:
19:7125518 C / T
gnomAD v2:
19-7125518-C-T
gnomAD v3:
19-7125507-C-T
gnomAD v4:
19-7125507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125507C>T , CM000681.2:g.7125507C>T | GRCh38 |
| NC_000019.9:g.7125518C>T , CM000681.1:g.7125518C>T | GRCh37 |
| NC_000019.8:g.7076518C>T | NCBI36 |
| NG_008852.2:g.173494G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.3034G>A MANE Select | ENSP00000303830.4:p.Val1012Met | |
| ENST00000302850.9:c.3034G>A | ENSP00000303830.4:p.Val1012Met | |
| ENST00000341500.9:c.2998G>A | ENSP00000342838.4:p.Val1000Met | |
| NM_000208.2:c.3034G>A | NP_000199.2:p.Val1012Met | |
| NM_000208.3:c.3034G>A | NP_000199.2:p.Val1012Met | |
| NM_001079817.1:c.2998G>A | NP_001073285.1:p.Val1000Met | |
| NM_001079817.2:c.2998G>A | NP_001073285.1:p.Val1000Met | |
| XM_011527988.1:c.3109G>A | XP_011526290.1:p.Val1037Met | |
| XM_011527989.1:c.3073G>A | XP_011526291.1:p.Val1025Met | |
| XM_011527988.2:c.3031G>A | XP_011526290.2:p.Val1011Met | |
| XM_011527989.3:c.2995G>A | XP_011526291.2:p.Val999Met | |
| NM_000208.4:c.3034G>A MANE Select | NP_000199.2:p.Val1012Met | |
| NM_001079817.3:c.2998G>A | NP_001073285.1:p.Val1000Met |