gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47600935 (SAS)
Genomes Max Group AF
0.47600935 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61992400T>G , CM000672.2:g.61992400T>G | GRCh38 |
| NC_000010.10:g.63752159T>G , CM000672.1:g.63752159T>G | GRCh37 |
| NC_000010.9:g.63422165T>G | NCBI36 |
| NG_030027.1:g.96147T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.503-7691T>G MANE Select | ENSP00000279873.7:n.503-7691T>G | |
| ENST00000644638.1:c.503-7691T>G | ENSP00000494412.1:n.503-7691T>G | |
| ENST00000681100.1:c.503-7691T>G | ENSP00000506119.1:n.503-7691T>G | |
| ENST00000279873.11:c.503-7691T>G | ENSP00000279873.7:n.503-7691T>G | |
| NM_032199.2:c.503-7691T>G | NP_115575.1:n.503-7691T>G | |
| XM_011540262.1:c.502+51992T>G | XP_011538564.1:n.502+51992T>G | |
| XM_024448230.1:c.-65-7691T>G | XP_024303998.1:n.-65-7691T>G | |
| NM_032199.3:c.503-7691T>G MANE Select | NP_115575.1:n.503-7691T>G |