Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857820C>T , CM000674.2:g.121857820C>T | GRCh38 |
| NC_000012.11:g.122295726C>T , CM000674.1:g.122295726C>T | GRCh37 |
| NC_000012.10:g.120780109C>T | NCBI36 |
| NG_016461.1:g.35792G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.31-1G>A (HPD) MANE Select | NP_002141.2:n.31-1G>A |
| ENST00000289004.8:c.31-1G>A (HPD) MANE Select | ENSP00000289004.4:n.31-1G>A |
| NM_001171993.1:c.-87-1G>A (HPD) | NP_001165464.1:n.-87-1G>A |
| NM_001171993.2:c.-87-1G>A (HPD) | NP_001165464.1:n.-87-1G>A |
| NM_002150.2:c.31-1G>A (HPD) | NP_002141.1:n.31-1G>A |
| ENST00000535114.1:n.63-1G>A (HPD) | |
| ENST00000543163.5:c.-87-1G>A (HPD) | ENSP00000441677.1:n.-87-1G>A |
| XR_002957437.1:n.525C>T (TIALD) | |
| XR_945467.1:n.71C>T (TIALD) |