Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78814709C>A , CM000667.2:g.78814709C>A | GRCh38 |
| NC_000005.9:g.78110532C>A , CM000667.1:g.78110532C>A | GRCh37 |
| NC_000005.8:g.78146288C>A | NCBI36 |
| NG_007089.1:g.176826G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1213+24647G>T MANE Select | ENSP00000264914.4:n.1213+24647G>T | |
| ENST00000264914.8:c.1213+24647G>T | ENSP00000264914.4:n.1213+24647G>T | |
| NM_000046.3:c.1213+24647G>T | NP_000037.2:n.1213+24647G>T | |
| XM_011543390.1:c.1213+24647G>T | XP_011541692.1:n.1213+24647G>T | |
| NM_000046.4:c.1213+24647G>T | NP_000037.2:n.1213+24647G>T | |
| XR_001742065.2:n.3302G>T | ||
| XR_001742066.2:n.1284+24647G>T | ||
| NM_000046.5:c.1213+24647G>T MANE Select | NP_000037.2:n.1213+24647G>T |