gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63493061A>T , CM000679.2:g.63493061A>T | GRCh38 |
| NC_000017.10:g.61570422A>T , CM000679.1:g.61570422A>T | GRCh37 |
| NC_000017.9:g.58924154A>T | NCBI36 |
| NG_011648.1:g.20989A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2913-375A>T MANE Select | ENSP00000290866.4:n.2913-375A>T | |
| ENST00000290863.10:c.1191-375A>T | ENSP00000290863.6:n.1191-375A>T | |
| ENST00000290866.9:c.2913-375A>T | ENSP00000290866.4:n.2913-375A>T | |
| ENST00000413513.7:c.1191-375A>T | ENSP00000392247.3:n.1191-375A>T | |
| ENST00000428043.5:c.2913-375A>T | ENSP00000397593.2:n.2913-375A>T | |
| ENST00000577418.5:n.147-861A>T | ||
| ENST00000577647.2:c.1191-375A>T | ENSP00000464149.1:n.1191-375A>T | |
| ENST00000578839.5:c.*791-375A>T | ENSP00000462110.2:n.*791-375A>T | |
| ENST00000579314.5:c.*642-375A>T | ENSP00000462599.1:n.*642-375A>T | |
| ENST00000582761.1:c.668-861A>T | ENSP00000462909.1:n.668-861A>T | |
| ENST00000583645.1:n.878-375A>T | ||
| ENST00000584865.5:n.859-375A>T | ||
| NM_000789.3:c.2913-375A>T | NP_000780.1:n.2913-375A>T | |
| NM_001178057.1:c.1191-375A>T | NP_001171528.1:n.1191-375A>T | |
| NM_152830.2:c.1191-375A>T | NP_690043.1:n.1191-375A>T | |
| XM_005257110.1:c.2364-375A>T | XP_005257167.1:n.2364-375A>T | |
| XM_006721737.2:c.1251-375A>T | XP_006721800.2:n.1251-375A>T | |
| XM_006721737.3:c.1251-375A>T | XP_006721800.2:n.1251-375A>T | |
| NM_000789.4:c.2913-375A>T MANE Select | NP_000780.1:n.2913-375A>T | |
| NM_001178057.2:c.1191-375A>T | NP_001171528.1:n.1191-375A>T | |
| NM_152830.3:c.1191-375A>T | NP_690043.1:n.1191-375A>T | |
| NM_001382700.1:c.2346-375A>T | NP_001369629.1:n.2346-375A>T | |
| NM_001382701.1:c.2061-375A>T | NP_001369630.1:n.2061-375A>T | |
| NM_001382702.1:c.651-375A>T | NP_001369631.1:n.651-375A>T | |
| NR_168483.1:n.1291-375A>T |