COSMIC:
COSM4000737 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23044728 (EAS)
Genomes Max Group AF
0.21078926 (EAS)
Exomes Max Group AF
0.23185724 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40729215A>G , CM000681.2:g.40729215A>G | GRCh38 |
| NC_000019.9:g.41235120A>G , CM000681.1:g.41235120A>G | GRCh37 |
| NC_000019.8:g.45926960A>G | NCBI36 |
| NG_012970.1:g.17113A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699488.1:c.1156-3945A>G | ENSP00000514399.1:n.1156-3945A>G | |
| ENST00000699489.1:c.1269A>G | ENSP00000514400.1:p.Ala423= | |
| ENST00000699490.1:c.1269A>G | ENSP00000514401.1:p.Ala423= | |
| ENST00000263370.3:c.1269A>G MANE Select | ENSP00000263370.1:p.Ala423= | |
| ENST00000263370.2:c.1269A>G | ENSP00000263370.1:p.Ala423= | |
| NM_025194.2:c.1269A>G | NP_079470.1:p.Ala423= | |
| XM_006723404.1:c.1269A>G | XP_006723467.1:p.Ala423= | |
| XR_243961.1:n.1425A>G | ||
| XM_017027324.2:c.486A>G | XP_016882813.1:p.Ala162= | |
| NM_025194.3:c.1269A>G MANE Select | NP_079470.1:p.Ala423= |