Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857775C>T , CM000674.2:g.121857775C>T | GRCh38 |
| NC_000012.11:g.122295681C>T , CM000674.1:g.122295681C>T | GRCh37 |
| NC_000012.10:g.120780064C>T | NCBI36 |
| NG_016461.1:g.35837G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.75G>A (HPD) MANE Select | NP_002141.2:p.Trp25Ter |
| ENST00000289004.8:c.75G>A (HPD) MANE Select | ENSP00000289004.4:p.Trp25Ter |
| NM_001171993.1:c.-43G>A (HPD) | NP_001165464.1:n.-43G>A |
| NM_001171993.2:c.-43G>A (HPD) | NP_001165464.1:n.-43G>A |
| NM_002150.2:c.75G>A (HPD) | NP_002141.1:p.Trp25Ter |
| ENST00000535114.1:n.107G>A (HPD) | |
| ENST00000543163.5:c.-43G>A (HPD) | ENSP00000441677.1:n.-43G>A |
| XR_002957437.1:n.480C>T (TIALD) | |
| XR_945467.1:n.26C>T (TIALD) |