gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77613776 (AFR)
Genomes Max Group AF
0.7674036 (AFR)
Exomes Max Group AF
0.78212078 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155214875C>T , CM000666.2:g.155214875C>T | GRCh38 |
| NC_000004.11:g.156136027C>T , CM000666.1:g.156136027C>T | GRCh37 |
| NC_000004.10:g.156355477C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329476.4:c.936C>T MANE Select | ENSP00000332591.3:p.Ile312= | |
| ENST00000329476.3:c.936C>T | ENSP00000332591.3:p.Ile312= | |
| ENST00000506608.1:c.936C>T | ENSP00000426366.1:p.Ile312= | |
| NM_000910.3:c.936C>T | NP_000901.1:p.Ile312= | |
| XM_005263033.3:c.936C>T | XP_005263090.1:p.Ile312= | |
| XM_005263034.3:c.936C>T | XP_005263091.1:p.Ile312= | |
| XM_005263033.4:c.936C>T | XP_005263090.1:p.Ile312= | |
| XM_005263034.4:c.936C>T | XP_005263091.1:p.Ile312= | |
| NM_000910.4:c.936C>T MANE Select | NP_000901.1:p.Ile312= | |
| NM_001370180.1:c.936C>T | NP_001357109.1:p.Ile312= | |
| NM_001375470.1:c.936C>T | NP_001362399.1:p.Ile312= |