Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857807G>A , CM000674.2:g.121857807G>A | GRCh38 |
| NC_000012.11:g.122295713G>A , CM000674.1:g.122295713G>A | GRCh37 |
| NC_000012.10:g.120780096G>A | NCBI36 |
| NG_016461.1:g.35805C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.43C>T (HPD) MANE Select | NP_002141.2:p.Arg15Ter |
| ENST00000289004.8:c.43C>T (HPD) MANE Select | ENSP00000289004.4:p.Arg15Ter |
| NM_001171993.1:c.-75C>T (HPD) | NP_001165464.1:n.-75C>T |
| NM_001171993.2:c.-75C>T (HPD) | NP_001165464.1:n.-75C>T |
| NM_002150.2:c.43C>T (HPD) | NP_002141.1:p.Arg15Ter |
| ENST00000535114.1:n.75C>T (HPD) | |
| ENST00000543163.5:c.-75C>T (HPD) | ENSP00000441677.1:n.-75C>T |
| XR_002957437.1:n.512G>A (TIALD) | |
| XR_945467.1:n.58G>A (TIALD) |