Linked Data
ClinVar Variation Id:
1394110
ClinVar RCV Id:
RCV001900835
dbSNP Id:
rs375592383
ExAC:
16:16263674 C / T
gnomAD v2:
16-16263674-C-T
gnomAD v3:
16-16169817-C-T
gnomAD v4:
16-16169817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169817C>T , CM000678.2:g.16169817C>T | GRCh38 |
| NC_000016.9:g.16263674C>T , CM000678.1:g.16263674C>T | GRCh37 |
| NC_000016.8:g.16171175C>T | NCBI36 |
| NG_007558.2:g.58655G>A | |
| NG_007558.3:g.58801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2824G>A | ENSP00000483331.2:p.Val942Met | |
| ENST00000205557.12:c.2824G>A MANE Select | ENSP00000205557.7:p.Val942Met | |
| ENST00000205557.11:c.2824G>A | ENSP00000205557.7:p.Val942Met | |
| ENST00000456970.6:c.2649G>A | ENSP00000405002.2:n.2649G>A | |
| ENST00000622290.4:c.*33G>A | ENSP00000483331.1:n.*33G>A | |
| NM_001171.5:c.2824G>A | NP_001162.4:p.Val942Met | |
| XM_011522479.1:c.2791G>A | XP_011520781.1:p.Val931Met | |
| XM_011522480.1:c.2482G>A | XP_011520782.1:p.Val828Met | |
| XM_011522481.1:c.2482G>A | XP_011520783.1:p.Val828Met | |
| XR_932836.1:n.3059G>A | ||
| XR_932837.1:n.3060G>A | ||
| XR_932838.1:n.3060G>A | ||
| NM_001351800.1:c.2482G>A | NP_001338729.1:p.Val828Met | |
| NR_147784.1:n.2686G>A | ||
| XM_011522479.2:c.2791G>A | XP_011520781.1:p.Val931Met | |
| XM_011522481.3:c.2482G>A | XP_011520783.1:p.Val828Met | |
| XM_017023212.1:c.2656G>A | XP_016878701.1:p.Val886Met | |
| XM_017023214.1:c.2824G>A | XP_016878703.1:p.Val942Met | |
| XM_024450261.1:c.2860G>A | XP_024306029.1:p.Val954Met | |
| XR_932836.2:n.3005G>A | ||
| XR_932837.3:n.3005G>A | ||
| XR_932838.3:n.3005G>A | ||
| NM_001171.6:c.2824G>A MANE Select | NP_001162.5:p.Val942Met |