COSMIC:
COSM4128394 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65877905 (AFR)
Genomes Max Group AF
0.64931037 (AFR)
Exomes Max Group AF
0.66617423 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74411588T>C , CM000677.2:g.74411588T>C | GRCh38 |
| NC_000015.9:g.74703929T>C , CM000677.1:g.74703929T>C | GRCh37 |
| NC_000015.8:g.72490982T>C | NCBI36 |
| NG_011733.1:g.27371A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261918.9:c.1545A>G MANE Select | ENSP00000261918.4:p.Gln515= | |
| ENST00000542748.6:c.1050A>G | ENSP00000441493.1:p.Gln350= | |
| ENST00000261918.8:c.1545A>G | ENSP00000261918.4:p.Gln515= | |
| ENST00000542748.5:c.1050A>G | ENSP00000441493.1:p.Gln350= | |
| ENST00000543145.6:c.1503A>G | ENSP00000438966.2:p.Gln501= | |
| ENST00000569617.1:n.52A>G | ||
| NM_001146029.1:c.1503A>G | NP_001139501.1:p.Gln501= | |
| NM_001146030.1:c.1050A>G | NP_001139502.1:p.Gln350= | |
| NM_003612.3:c.1545A>G | NP_003603.1:p.Gln515= | |
| NM_001146029.2:c.1503A>G | NP_001139501.1:p.Gln501= | |
| NM_001146030.2:c.1050A>G | NP_001139502.1:p.Gln350= | |
| NM_003612.4:c.1545A>G | NP_003603.1:p.Gln515= | |
| NM_003612.5:c.1545A>G MANE Select | NP_003603.1:p.Gln515= | |
| NM_001146029.3:c.1503A>G | NP_001139501.1:p.Gln501= | |
| NM_001146030.3:c.1050A>G | NP_001139502.1:p.Gln350= |