COSMIC:
COSM6350511 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70109604 (NFE)
Genomes Max Group AF
0.68830616 (NFE)
Exomes Max Group AF
0.7015961 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52880932C>T , CM000681.2:g.52880932C>T | GRCh38 |
| NC_000019.9:g.53384185C>T , CM000681.1:g.53384185C>T | GRCh37 |
| NC_000019.8:g.58075997C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682928.1:c.1194G>A MANE Select | ENSP00000506814.1:p.Ala398= | |
| ENST00000594408.3:c.143-6860G>A | ENSP00000501288.1:n.143-6860G>A | |
| ENST00000673631.1:c.143-6860G>A | ENSP00000500974.1:n.143-6860G>A | |
| ENST00000391781.6:c.1194G>A | ENSP00000375660.2:p.Ala398= | |
| ENST00000595635.5:c.1194G>A | ENSP00000473091.1:p.Ala398= | |
| ENST00000597909.5:c.143-6860G>A | ENSP00000472908.1:n.143-6860G>A | |
| ENST00000600930.1:n.313-4347G>A | ||
| ENST00000634278.1:c.1194G>A | ENSP00000489045.1:p.Ala398= | |
| NM_207333.2:c.1194G>A | NP_997216.2:p.Ala398= | |
| XM_006723059.2:c.1194G>A | XP_006723122.1:p.Ala398= | |
| NM_001351773.1:c.1194G>A | NP_001338702.1:p.Ala398= | |
| NM_001351774.1:c.1194G>A | NP_001338703.1:p.Ala398= | |
| NM_001351775.1:c.1194G>A | NP_001338704.1:p.Ala398= | |
| NM_001351776.1:c.1194G>A | NP_001338705.1:p.Ala398= | |
| NM_001351777.1:c.143-6860G>A | NP_001338706.1:n.143-6860G>A | |
| NM_207333.3:c.1194G>A | NP_997216.2:p.Ala398= | |
| XM_024451396.1:c.143-6860G>A | XP_024307164.1:n.143-6860G>A | |
| XM_024451397.1:c.143-6860G>A | XP_024307165.1:n.143-6860G>A | |
| XM_024451398.1:c.143-6860G>A | XP_024307166.1:n.143-6860G>A | |
| XM_024451399.1:c.143-6860G>A | XP_024307167.1:n.143-6860G>A | |
| XR_001753616.2:n.1661G>A | ||
| XR_002958275.1:n.1518G>A | ||
| XR_002958276.1:n.1522G>A | ||
| XR_002958277.1:n.1431G>A | ||
| XR_002958278.1:n.1402G>A | ||
| XR_002958279.1:n.1395G>A | ||
| NM_001351774.2:c.1194G>A MANE Select | NP_001338703.1:p.Ala398= | |
| NM_001351775.2:c.1194G>A | NP_001338704.1:p.Ala398= | |
| NM_001351776.2:c.1194G>A | NP_001338705.1:p.Ala398= | |
| NM_001351773.2:c.1194G>A | NP_001338702.1:p.Ala398= | |
| NM_001351777.2:c.143-6860G>A | NP_001338706.1:n.143-6860G>A | |
| NM_001387570.1:c.143-6860G>A | NP_001374499.1:n.143-6860G>A | |
| NM_001387571.1:c.143-6860G>A | NP_001374500.1:n.143-6860G>A | |
| NM_001387572.1:c.1194G>A | NP_001374501.1:p.Ala398= | |
| NM_001387573.1:c.1194G>A | NP_001374502.1:p.Ala398= | |
| NM_001387574.1:c.1194G>A | NP_001374503.1:p.Ala398= | |
| NM_001387575.1:c.1194G>A | NP_001374504.1:p.Ala398= | |
| NM_001387576.1:c.1194G>A | NP_001374505.1:p.Ala398= | |
| NM_001387577.1:c.1194G>A | NP_001374506.1:p.Ala398= | |
| NM_207333.4:c.1194G>A | NP_997216.2:p.Ala398= |