COSMIC:
COSM442850 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69832564 (AFR)
Genomes Max Group AF
0.69693666 (AFR)
Exomes Max Group AF
0.69535099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3388304T>C , CM000664.2:g.3388304T>C | GRCh38 |
| NC_000002.11:g.3392075T>C , CM000664.1:g.3392075T>C | GRCh37 |
| NC_000002.10:g.3371082T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324266.10:c.681T>C MANE Select | ENSP00000324318.5:p.Phe227= | |
| ENST00000324266.9:c.681T>C | ENSP00000324318.5:p.Phe227= | |
| ENST00000382110.6:c.681T>C | ENSP00000371544.2:p.Phe227= | |
| ENST00000411973.3:c.178T>C | ||
| ENST00000482645.1:n.842T>C | ||
| NM_016030.5:c.681T>C | NP_057114.5:p.Phe227= | |
| XM_005264693.2:c.681T>C | XP_005264750.1:p.Phe227= | |
| XM_011510350.1:c.681T>C | XP_011508652.1:p.Phe227= | |
| XM_011510351.1:c.681T>C | XP_011508653.1:p.Phe227= | |
| XM_011510352.1:c.681T>C | XP_011508654.1:p.Phe227= | |
| XM_011510353.1:c.681T>C | XP_011508655.1:p.Phe227= | |
| XM_011510354.1:c.681T>C | XP_011508656.1:p.Phe227= | |
| XR_426956.2:n.879T>C | ||
| XR_922679.1:n.890T>C | ||
| NM_001321102.1:c.681T>C | NP_001308031.1:p.Phe227= | |
| XM_011510350.2:c.681T>C | XP_011508652.1:p.Phe227= | |
| XM_011510352.2:c.681T>C | XP_011508654.1:p.Phe227= | |
| XM_011510353.2:c.681T>C | XP_011508655.1:p.Phe227= | |
| XM_011510354.2:c.681T>C | XP_011508656.1:p.Phe227= | |
| XM_017004257.1:c.681T>C | XP_016859746.1:p.Phe227= | |
| XR_001738761.1:n.1317T>C | ||
| XR_001738762.1:n.1317T>C | ||
| XR_426956.3:n.1317T>C | ||
| NM_016030.6:c.681T>C MANE Select | NP_057114.5:p.Phe227= | |
| NM_001321102.2:c.681T>C | NP_001308031.1:p.Phe227= |