COSMIC:
COSM3751473 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59628002 (AFR)
Genomes Max Group AF
0.58943337 (AFR)
Exomes Max Group AF
0.60049366 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98387303A>G , CM000672.2:g.98387303A>G | GRCh38 |
| NC_000010.10:g.100147060A>G , CM000672.1:g.100147060A>G | GRCh37 |
| NC_000010.9:g.100137050A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370575.5:c.1452T>C MANE Select | ENSP00000359607.4:p.Phe484= | |
| ENST00000370575.4:c.1452T>C | ENSP00000359607.4:p.Phe484= | |
| ENST00000464808.1:n.308T>C | ||
| ENST00000483923.5:n.2338T>C | ||
| NM_032709.2:c.1452T>C | NP_116098.2:p.Phe484= | |
| XM_011540293.1:c.1554T>C | XP_011538595.1:p.Phe518= | |
| XM_011540294.1:c.1554T>C | XP_011538596.1:p.Phe518= | |
| XM_011540297.1:c.1089T>C | XP_011538599.1:p.Phe363= | |
| XM_011540298.1:c.1089T>C | XP_011538600.1:p.Phe363= | |
| XM_011540301.1:c.645T>C | XP_011538603.1:p.Phe215= | |
| XR_945839.1:n.3625T>C | ||
| XR_945840.1:n.3847T>C | ||
| XR_945841.1:n.3694T>C | ||
| XR_945842.1:n.3472T>C | ||
| XM_011540293.2:c.1554T>C | XP_011538595.1:p.Phe518= | |
| XM_011540301.2:c.645T>C | XP_011538603.1:p.Phe215= | |
| XM_017016835.1:c.1452T>C | XP_016872324.1:p.Phe484= | |
| XM_017016838.1:c.1089T>C | XP_016872327.1:p.Phe363= | |
| XM_017016839.2:c.1089T>C | XP_016872328.1:p.Phe363= | |
| XM_017016840.1:c.1089T>C | XP_016872329.1:p.Phe363= | |
| XM_017016841.1:c.1089T>C | XP_016872330.1:p.Phe363= | |
| XR_001747233.1:n.1499T>C | ||
| XR_001747234.1:n.1719T>C | ||
| XR_001747235.1:n.1564T>C | ||
| XR_001747236.1:n.1344T>C | ||
| XR_001747237.1:n.1344T>C | ||
| XR_001747238.1:n.1483T>C | ||
| XR_001747239.1:n.1483T>C | ||
| NM_032709.3:c.1452T>C MANE Select | NP_116098.2:p.Phe484= |