gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010289 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00010814 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47641630C>T , CM000678.2:g.47641630C>T | GRCh38 |
| NC_000016.9:g.47675541C>T , CM000678.1:g.47675541C>T | GRCh37 |
| NC_000016.8:g.46233042C>T | NCBI36 |
| NG_016598.1:g.185332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*120C>T | ENSP00000512887.1:n.*120C>T | |
| ENST00000699276.1:c.1525C>T | ENSP00000514257.1:p.Gln509Ter | |
| ENST00000323584.10:c.1546C>T MANE Select | ENSP00000313504.5:p.Gln516Ter | |
| ENST00000299167.12:c.1546C>T | ENSP00000299167.8:p.Gln516Ter | |
| ENST00000323584.9:c.1546C>T | ENSP00000313504.5:p.Gln516Ter | |
| ENST00000566044.5:c.1525C>T | ENSP00000456729.1:p.Gln509Ter | |
| NM_000293.2:c.1546C>T | NP_000284.1:p.Gln516Ter | |
| NM_001031835.2:c.1525C>T | NP_001027005.1:p.Gln509Ter | |
| XM_005255983.3:c.1546C>T | XP_005256040.1:p.Gln516Ter | |
| XM_005255984.3:c.1525C>T | XP_005256041.1:p.Gln509Ter | |
| XM_011523106.1:c.1546C>T | XP_011521408.1:p.Gln516Ter | |
| XM_011523107.1:c.124C>T | XP_011521409.1:p.Gln42Ter | |
| NM_001363837.1:c.1546C>T | NP_001350766.1:p.Gln516Ter | |
| XM_005255983.4:c.1546C>T | XP_005256040.1:p.Gln516Ter | |
| XM_005255984.4:c.1525C>T | XP_005256041.1:p.Gln509Ter | |
| XM_017023282.1:c.433C>T | XP_016878771.1:p.Gln145Ter | |
| XM_017023283.1:c.124C>T | XP_016878772.1:p.Gln42Ter | |
| XM_017023284.1:c.124C>T | XP_016878773.1:p.Gln42Ter | |
| XR_001751913.1:n.1561C>T | ||
| NM_000293.3:c.1546C>T MANE Select | NP_000284.1:p.Gln516Ter | |
| NM_001031835.3:c.1525C>T | NP_001027005.1:p.Gln509Ter |