Linked Data
dbSNP Id:
rs764800468
ExAC:
3:142188200 C / T
gnomAD v2:
3-142188200-C-T
gnomAD v4:
3-142469358-C-T
COSMIC:
COSM1039355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142469358C>T , CM000665.2:g.142469358C>T | GRCh38 |
| NC_000003.11:g.142188200C>T , CM000665.1:g.142188200C>T | GRCh37 |
| NC_000003.10:g.143670890C>T | NCBI36 |
| NG_008951.1:g.114469G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.6531G>A MANE Select | ENSP00000343741.4:p.Trp2177Ter | |
| ENST00000513291.2:n.1715G>A | ||
| ENST00000654170.1:n.1374G>A | ||
| ENST00000656590.1:c.5321G>A | ||
| ENST00000661310.1:c.6339G>A | ENSP00000499589.1:p.Trp2113Ter | |
| ENST00000665483.1:n.386G>A | ||
| ENST00000666447.1:n.366G>A | ||
| ENST00000666943.1:n.1995G>A | ||
| ENST00000350721.8:c.6531G>A | ENSP00000343741.4:p.Trp2177Ter | |
| ENST00000513291.1:c.70G>A | ||
| NM_001184.3:c.6531G>A | NP_001175.2:p.Trp2177Ter | |
| XM_011512924.1:c.6537G>A | XP_011511226.1:p.Trp2179Ter | |
| XM_011512925.1:c.6345G>A | XP_011511227.1:p.Trp2115Ter | |
| XR_924147.1:n.6626G>A | ||
| XR_924148.1:n.6626G>A | ||
| XR_924149.1:n.6505G>A | ||
| NM_001354579.1:c.6339G>A | NP_001341508.1:p.Trp2113Ter | |
| XR_001740179.2:n.6620G>A | ||
| XR_924148.2:n.6626G>A | ||
| NM_001184.4:c.6531G>A MANE Select | NP_001175.2:p.Trp2177Ter | |
| NM_001354579.2:c.6339G>A | NP_001341508.1:p.Trp2113Ter |