COSMIC:
COSM4157440 (not active)
COSM4157441 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72030621 (AMR)
Genomes Max Group AF
0.71148858 (NFE)
Exomes Max Group AF
0.73197388 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448243G>A , CM000665.2:g.172448243G>A | GRCh38 |
| NC_000003.11:g.172166033G>A , CM000665.1:g.172166033G>A | GRCh37 |
| NC_000003.10:g.173648727G>A | NCBI36 |
| NG_021159.1:g.5214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.171C>T MANE Select | ENSP00000241256.2:p.Gly57= | |
| ENST00000241256.2:c.171C>T | ENSP00000241256.2:p.Gly57= | |
| ENST00000427970.1:c.171C>T | ENSP00000395344.1:p.Gly57= | |
| NM_004122.2:c.171C>T | NP_004113.1:p.Gly57= | |
| NM_198407.2:c.171C>T MANE Select | NP_940799.1:p.Gly57= |