gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028753 (NFE)
Genomes Max Group AF
0.00035403 (NFE)
Exomes Max Group AF
0.00027718 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37432074A>C , CM000671.2:g.37432074A>C | GRCh38 |
| NC_000009.11:g.37432071A>C , CM000671.1:g.37432071A>C | GRCh37 |
| NC_000009.10:g.37422071A>C | NCBI36 |
| NG_008135.1:g.14365A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.801A>C MANE Select | ENSP00000313432.6:p.Gly267= | |
| ENST00000318158.10:c.801A>C | ENSP00000313432.6:p.Gly267= | |
| ENST00000460882.5:n.828A>C | ||
| ENST00000480596.5:n.1502A>C | ||
| ENST00000482603.1:n.254A>C | ||
| ENST00000491488.5:n.506A>C | ||
| ENST00000494290.1:c.*51+923A>C | ENSP00000432021.1:n.*51+923A>C | |
| ENST00000497693.1:n.4369A>C | ||
| ENST00000607784.1:c.801A>C | ENSP00000475569.1:p.Gly267= | |
| NM_012203.1:c.801A>C | NP_036335.1:p.Gly267= | |
| XM_005251631.1:c.480A>C | XP_005251688.1:p.Gly160= | |
| XM_011518073.1:c.399A>C | XP_011516375.1:p.Gly133= | |
| XM_017015320.2:c.801A>C | XP_016870809.1:p.Gly267= | |
| XM_017015321.2:c.801A>C | XP_016870810.1:p.Gly267= | |
| XM_017015323.2:c.399A>C | XP_016870812.1:p.Gly133= | |
| XM_024447716.1:c.1074A>C | XP_024303484.1:p.Gly358= | |
| XM_024447717.1:c.1074A>C | XP_024303485.1:p.Gly358= | |
| XR_002956828.1:n.1089A>C | ||
| XR_002956829.1:n.1089A>C | ||
| XR_002956830.1:n.2221A>C | ||
| XR_002956831.1:n.1896A>C | ||
| XR_002956832.1:n.1220A>C | ||
| NM_012203.2:c.801A>C MANE Select | NP_036335.1:p.Gly267= |