COSMIC:
COSM3757079 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45415481 (AMR)
Genomes Max Group AF
0.49459932 (EAS)
Exomes Max Group AF
0.48470186 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50827676G>T , CM000681.2:g.50827676G>T | GRCh38 |
| NC_000019.9:g.51330932G>T , CM000681.1:g.51330932G>T | GRCh37 |
| NC_000019.8:g.56022744G>T | NCBI36 |
| NG_012094.1:g.1112C>A | |
| NG_029894.1:g.8848C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598239.6:c.183C>A MANE Select | ENSP00000469315.1:p.Ala61= | |
| ENST00000695963.1:n.44-515C>A | ||
| ENST00000695964.1:n.44-515C>A | ||
| ENST00000695965.1:c.183C>A | ENSP00000512291.1:p.Ala61= | |
| ENST00000695998.1:c.180C>A | ENSP00000512319.1:p.Ala60= | |
| ENST00000326856.8:c.180C>A | ENSP00000314783.4:p.Ala60= | |
| ENST00000596931.5:c.180C>A | ENSP00000471164.1:p.Ala60= | |
| ENST00000598239.5:c.183C>A | ENSP00000469315.1:p.Ala61= | |
| ENST00000598673.1:c.-19C>A | ENSP00000472523.1:n.-19C>A | |
| ENST00000601680.1:n.183C>A | ||
| ENST00000602114.1:c.180C>A | ENSP00000468856.1:p.Ala60= | |
| NM_001277081.1:c.180C>A | NP_001264010.1:p.Ala60= | |
| NM_001277082.1:c.180C>A | NP_001264011.1:p.Ala60= | |
| NM_017509.3:c.183C>A | NP_059979.2:p.Ala61= | |
| NR_102274.1:n.211C>A | ||
| XM_006723265.2:c.183C>A | XP_006723328.1:p.Ala61= | |
| XM_011527083.1:c.183C>A | XP_011525385.1:p.Ala61= | |
| XM_011527084.1:c.183C>A | XP_011525386.1:p.Ala61= | |
| XM_011527085.1:c.180C>A | XP_011525387.1:p.Ala60= | |
| XM_011527086.1:c.180C>A | XP_011525388.1:p.Ala60= | |
| XM_011527087.1:c.183C>A | XP_011525389.1:p.Ala61= | |
| XM_011527088.1:c.183C>A | XP_011525390.1:p.Ala61= | |
| XM_011527089.1:c.180C>A | XP_011525391.1:p.Ala60= | |
| XM_011527090.1:c.183C>A | XP_011525392.1:p.Ala61= | |
| XM_006723265.3:c.183C>A | XP_006723328.1:p.Ala61= | |
| XM_011527085.2:c.180C>A | XP_011525387.1:p.Ala60= | |
| XM_011527087.2:c.183C>A | XP_011525389.1:p.Ala61= | |
| XM_011527088.2:c.183C>A | XP_011525390.1:p.Ala61= | |
| XM_011527089.2:c.180C>A | XP_011525391.1:p.Ala60= | |
| XM_017026943.1:c.183C>A | XP_016882432.1:p.Ala61= | |
| XR_001753713.1:n.1022C>A | ||
| NM_001277081.2:c.180C>A | NP_001264010.1:p.Ala60= | |
| NM_001277082.2:c.180C>A | NP_001264011.1:p.Ala60= | |
| NM_017509.4:c.183C>A MANE Select | NP_059979.2:p.Ala61= |