Linked Data
ClinVar Variation Id:
433266
dbSNP Id:
rs72653786
gnomAD v2:
16-16272818-A-T
gnomAD v3:
16-16178961-A-T
gnomAD v4:
16-16178961-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16178961A>T , CM000678.2:g.16178961A>T | GRCh38 |
| NC_000016.9:g.16272818A>T , CM000678.1:g.16272818A>T | GRCh37 |
| NC_000016.8:g.16180319A>T | NCBI36 |
| NG_007558.2:g.49511T>A | |
| NG_007558.3:g.49657T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2252T>A | ENSP00000483331.2:p.Met751Lys | |
| ENST00000205557.12:c.2252T>A MANE Select | ENSP00000205557.7:p.Met751Lys | |
| ENST00000205557.11:c.2252T>A | ENSP00000205557.7:p.Met751Lys | |
| ENST00000456970.6:c.2252T>A | ENSP00000405002.2:p.Met751Lys | |
| ENST00000622290.4:c.2252T>A | ENSP00000483331.1:p.Met751Lys | |
| NM_001171.5:c.2252T>A | NP_001162.4:p.Met751Lys | |
| XM_011522479.1:c.2252T>A | XP_011520781.1:p.Met751Lys | |
| XM_011522480.1:c.1910T>A | XP_011520782.1:p.Met637Lys | |
| XM_011522481.1:c.1910T>A | XP_011520783.1:p.Met637Lys | |
| XM_011522482.1:c.2252T>A | XP_011520784.1:p.Met751Lys | |
| XR_932836.1:n.2487T>A | ||
| XR_932837.1:n.2488T>A | ||
| XR_932838.1:n.2488T>A | ||
| NM_001351800.1:c.1910T>A | NP_001338729.1:p.Met637Lys | |
| NR_147784.1:n.2289T>A | ||
| XM_011522479.2:c.2252T>A | XP_011520781.1:p.Met751Lys | |
| XM_011522481.3:c.1910T>A | XP_011520783.1:p.Met637Lys | |
| XM_011522482.3:c.2252T>A | XP_011520784.1:p.Met751Lys | |
| XM_017023212.1:c.2248-1335T>A | XP_016878701.1:n.2248-1335T>A | |
| XM_017023214.1:c.2252T>A | XP_016878703.1:p.Met751Lys | |
| XM_024450261.1:c.2288T>A | XP_024306029.1:p.Met763Lys | |
| XR_932836.2:n.2433T>A | ||
| XR_932837.3:n.2433T>A | ||
| XR_932838.3:n.2433T>A | ||
| NM_001171.6:c.2252T>A MANE Select | NP_001162.5:p.Met751Lys |