Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495543C>T , CM000679.2:g.29495543C>T | GRCh38 |
| NC_000017.10:g.27822561C>T , CM000679.1:g.27822561C>T | GRCh37 |
| NC_000017.9:g.24846687C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020791.4:c.832-17C>T MANE Select | NP_065842.1:n.832-17C>T |
| ENST00000261716.8:c.832-17C>T MANE Select | ENSP00000261716.3:n.832-17C>T |
| NM_020791.2:c.832-17C>T | NP_065842.1:n.832-17C>T |
| NM_025142.1:c.832-17C>T | NP_079418.1:n.832-17C>T |
| ENST00000261716.7:c.832-17C>T | ENSP00000261716.3:n.832-17C>T |
| ENST00000536202.1:c.832-17C>T | ENSP00000438819.1:n.832-17C>T |
| ENST00000577583.1:n.680-17C>T | |
| XM_011525060.1:c.832-17C>T | XP_011523362.1:n.832-17C>T |
| XM_011525060.2:c.832-17C>T | XP_011523362.1:n.832-17C>T |