Linked Data
dbSNP Id:
rs755508725
ExAC:
19:12767807 G / T
gnomAD v2:
19-12767807-G-T
gnomAD v4:
19-12656993-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12656993G>T , CM000681.2:g.12656993G>T | GRCh38 |
| NC_000019.9:g.12767807G>T , CM000681.1:g.12767807G>T | GRCh37 |
| NC_000019.8:g.12628807G>T | NCBI36 |
| NG_008318.1:g.14785C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1483C>A MANE Select | ENSP00000395473.2:p.Gln495Lys | |
| ENST00000221363.8:c.1480C>A | ENSP00000221363.4:p.Gln494Lys | |
| ENST00000433513.5:n.89C>A | ||
| ENST00000456935.6:c.1483C>A | ENSP00000395473.2:p.Gln495Lys | |
| ENST00000466794.5:n.1382C>A | ||
| ENST00000495617.1:n.659C>A | ||
| ENST00000593686.1:c.93C>A | ||
| ENST00000595880.5:n.80C>A | ||
| NM_000528.3:c.1483C>A | NP_000519.2:p.Gln495Lys | |
| NM_001173498.1:c.1480C>A | NP_001166969.1:p.Gln494Lys | |
| XM_005259913.1:c.1486C>A | XP_005259970.1:p.Gln496Lys | |
| XM_011528017.1:c.382C>A | XP_011526319.1:p.Gln128Lys | |
| XM_005259913.2:c.1486C>A | XP_005259970.1:p.Gln496Lys | |
| XM_024451518.1:c.382C>A | XP_024307286.1:p.Gln128Lys | |
| NM_000528.4:c.1483C>A MANE Select | NP_000519.2:p.Gln495Lys | |
| NM_001173498.2:c.1480C>A | NP_001166969.1:p.Gln494Lys |