Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36137518A>T , CM000667.2:g.36137518A>T | GRCh38 |
| NC_000005.9:g.36137620A>T , CM000667.1:g.36137620A>T | GRCh37 |
| NC_000005.8:g.36173377A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001007527.2:c.369-77T>A MANE Select | NP_001007528.1:n.369-77T>A |
| ENST00000296603.5:c.369-77T>A MANE Select | ENSP00000296603.4:n.369-77T>A |
| NM_001007527.1:c.369-77T>A | NP_001007528.1:n.369-77T>A |
| ENST00000296603.4:c.369-77T>A | ENSP00000296603.4:n.369-77T>A |
| XM_011514162.1:c.369-77T>A | XP_011512464.1:n.369-77T>A |
| XM_011514162.2:c.369-77T>A | XP_011512464.1:n.369-77T>A |
| XM_017010024.2:c.-467-77T>A | XP_016865513.1:n.-467-77T>A |
| XR_001742339.1:n.832-77T>A | |
| XR_001742340.2:n.1267-77T>A |