COSMIC:
COSM1749086 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61770269 (AFR)
Genomes Max Group AF
0.61102361 (AFR)
Exomes Max Group AF
0.62162184 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851392A>G , CM000677.2:g.27851392A>G | GRCh38 |
| NC_000015.9:g.28096538A>G , CM000677.1:g.28096538A>G | GRCh37 |
| NC_000015.8:g.25770133A>G | NCBI36 |
| NG_009846.1:g.252921T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2328T>C MANE Select | ENSP00000346659.3:p.Ala776= | |
| ENST00000353809.9:c.2256T>C | ENSP00000261276.8:p.Ala752= | |
| ENST00000354638.7:c.2328T>C | ENSP00000346659.3:p.Ala776= | |
| NM_000275.2:c.2328T>C | NP_000266.2:p.Ala776= | |
| NM_001300984.1:c.2256T>C | NP_001287913.1:p.Ala752= | |
| XM_011521639.1:c.2394T>C | XP_011519941.1:p.Ala798= | |
| XM_011521640.1:c.2370T>C | XP_011519942.1:p.Ala790= | |
| XM_011521641.1:c.2352T>C | XP_011519943.1:p.Ala784= | |
| XM_011521642.1:c.2322T>C | XP_011519944.1:p.Ala774= | |
| XM_011521643.1:c.2280T>C | XP_011519945.1:p.Ala760= | |
| XM_011521644.1:c.2256T>C | XP_011519946.1:p.Ala752= | |
| XM_011521645.1:c.2187T>C | XP_011519947.1:p.Ala729= | |
| XM_011521640.2:c.2370T>C | XP_011519942.1:p.Ala790= | |
| XM_017022255.1:c.2394T>C | XP_016877744.1:p.Ala798= | |
| XM_017022256.1:c.2352T>C | XP_016877745.1:p.Ala784= | |
| XM_017022257.1:c.2322T>C | XP_016877746.1:p.Ala774= | |
| XM_017022258.1:c.2352T>C | XP_016877747.1:p.Ala784= | |
| XM_017022259.1:c.2280T>C | XP_016877748.1:p.Ala760= | |
| XM_017022260.1:c.2256T>C | XP_016877749.1:p.Ala752= | |
| XM_017022261.1:c.2199T>C | XP_016877750.1:p.Ala733= | |
| XM_017022262.1:c.2268+19762T>C | XP_016877751.1:n.2268+19762T>C | |
| XM_017022263.1:c.2187T>C | XP_016877752.1:p.Ala729= | |
| XM_017022264.1:c.2187T>C | XP_016877753.1:p.Ala729= | |
| NM_000275.3:c.2328T>C MANE Select | NP_000266.2:p.Ala776= | |
| NM_001300984.2:c.2256T>C | NP_001287913.1:p.Ala752= |