Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857429T= , CM000674.2:g.121857429T= | GRCh38 |
| NC_000012.11:g.122295335T= , CM000674.1:g.122295335T= | GRCh37 |
| NC_000012.10:g.120779718T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.97A= (HPD) MANE Select | NP_002141.2:p.Thr33= |
| ENST00000289004.8:c.97A= (HPD) MANE Select | ENSP00000289004.4:p.Thr33= |
| NM_001171993.2:c.-21A= (HPD) | NP_001165464.1:n.-21A= |
| ENST00000535114.1:n.453A= (HPD) | |
| ENST00000542159.2:n.155A= (HPD) | |
| ENST00000543163.5:c.-21A= (HPD) | ENSP00000441677.1:n.-21A= |
| XR_002957437.1:n.324-190T= (TIALD) |