Linked Data
ClinVar Variation Id:
2191040
ClinVar RCV Id:
RCV002616705
dbSNP Id:
rs369398270
gnomAD v2:
11-73689117-C-T
gnomAD v3:
11-73978072-C-T
gnomAD v4:
11-73978072-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73978072C>T , CM000673.2:g.73978072C>T | GRCh38 |
| NC_000011.9:g.73689117C>T , CM000673.1:g.73689117C>T | GRCh37 |
| NC_000011.8:g.73366765C>T | NCBI36 |
| NG_011478.1:g.9773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310473.9:c.151G>A | ENSP00000312029.3:p.Val51Met | |
| ENST00000663595.2:c.151G>A MANE Select | ENSP00000499695.1:p.Val51Met | |
| ENST00000310473.7:c.151G>A | ENSP00000312029.3:p.Val51Met | |
| ENST00000536983.5:c.151G>A | ENSP00000441147.1:p.Val51Met | |
| ENST00000544615.5:c.70G>A | ENSP00000439951.1:p.Val24Met | |
| NM_003355.2:c.151G>A | NP_003346.2:p.Val51Met | |
| XM_024448674.1:c.154G>A | XP_024304442.1:p.Val52Met | |
| NM_001381943.1:c.151G>A | NP_001368872.1:p.Val51Met | |
| NM_001381944.1:c.151G>A | NP_001368873.1:p.Val51Met | |
| NM_001381945.1:c.151G>A | NP_001368874.1:p.Val51Met | |
| NM_001381947.1:c.151G>A | NP_001368876.1:p.Val51Met | |
| NM_001381948.1:c.151G>A | NP_001368877.1:p.Val51Met | |
| NM_001381949.1:c.151G>A | NP_001368878.1:p.Val51Met | |
| NM_001381950.1:c.151G>A | NP_001368879.1:p.Val51Met | |
| NM_003355.3:c.151G>A MANE Select | NP_003346.2:p.Val51Met |