Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30263512T>A , CM000679.2:g.30263512T>A | GRCh38 |
| NC_000017.10:g.28590530T>A , CM000679.1:g.28590530T>A | GRCh37 |
| NC_000017.9:g.25614656T>A | NCBI36 |
| NG_011440.1:g.33545A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000386.4:c.1216+3373A>T MANE Select | NP_000377.1:n.1216+3373A>T |
| ENST00000261714.11:c.1216+3373A>T MANE Select | ENSP00000261714.6:n.1216+3373A>T |
| NM_000386.3:c.1216+3373A>T | NP_000377.1:n.1216+3373A>T |
| ENST00000261714.10:c.1216+3373A>T | ENSP00000261714.6:n.1216+3373A>T |
| ENST00000578090.5:c.*890+3373A>T | ENSP00000462353.1:n.*890+3373A>T |