COSMIC:
COSM3756106 (not active)
COSM3756107 (not active)
COSM3756108 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85251098 (AFR)
Genomes Max Group AF
0.84202114 (AFR)
Exomes Max Group AF
0.86303725 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2656249G>C , CM000680.2:g.2656249G>C | GRCh38 |
| NC_000018.9:g.2656248G>C , CM000680.1:g.2656248G>C | GRCh37 |
| NC_000018.8:g.2646248G>C | NCBI36 |
| NG_031972.1:g.5363G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.331G>C | ||
| ENST00000688342.1:c.174G>C | ENSP00000508422.1:p.Ala58= | |
| ENST00000320876.11:c.174G>C MANE Select | ENSP00000326603.7:p.Ala58= | |
| ENST00000320876.10:c.174G>C | ENSP00000326603.6:p.Ala58= | |
| NM_015295.2:c.174G>C | NP_056110.2:p.Ala58= | |
| XM_011525642.1:c.174G>C | XP_011523944.1:p.Ala58= | |
| XM_011525643.1:c.174G>C | XP_011523945.1:p.Ala58= | |
| XM_011525644.1:c.-135G>C | XP_011523946.1:n.-135G>C | |
| XM_011525646.1:c.174G>C | XP_011523948.1:p.Ala58= | |
| XM_011525647.1:c.174G>C | XP_011523949.1:p.Ala58= | |
| XR_430039.1:n.363G>C | ||
| XR_935054.1:n.363G>C | ||
| XR_935055.1:n.363G>C | ||
| XM_011525643.2:c.174G>C | XP_011523945.1:p.Ala58= | |
| XM_017025684.1:c.-569G>C | XP_016881173.1:n.-569G>C | |
| XR_001753172.1:n.363G>C | ||
| XR_001753173.1:n.363G>C | ||
| XR_001753174.1:n.363G>C | ||
| XR_001753175.1:n.363G>C | ||
| XR_001753176.1:n.363G>C | ||
| XR_001753177.1:n.363G>C | ||
| XR_001753178.1:n.363G>C | ||
| XR_001753179.1:n.363G>C | ||
| XR_935055.2:n.363G>C | ||
| NM_015295.3:c.174G>C MANE Select | NP_056110.2:p.Ala58= |