COSMIC:
COSM4000848 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3330136 (AFR)
Genomes Max Group AF
0.32848124 (AFR)
Exomes Max Group AF
0.33542058 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51501649G>A , CM000681.2:g.51501649G>A | GRCh38 |
| NC_000019.9:g.52004903G>A , CM000681.1:g.52004903G>A | GRCh37 |
| NC_000019.8:g.56696715G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291707.8:c.85C>T MANE Select | ENSP00000291707.3:p.Gln29Ter | |
| ENST00000291707.7:c.85C>T | ENSP00000291707.3:p.Gln29Ter | |
| ENST00000596742.1:c.85C>T | ENSP00000469791.1:p.Gln29Ter | |
| NM_053003.3:c.85C>T | NP_443729.1:p.Gln29Ter | |
| XM_011527442.1:c.85C>T | XP_011525744.1:p.Gln29Ter | |
| XM_011527442.2:c.85C>T | XP_011525744.1:p.Gln29Ter | |
| NM_053003.4:c.85C>T MANE Select | NP_443729.1:p.Gln29Ter |