Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857343T>A , CM000674.2:g.121857343T>A | GRCh38 |
| NC_000012.11:g.122295249T>A , CM000674.1:g.122295249T>A | GRCh37 |
| NC_000012.10:g.120779632T>A | NCBI36 |
| NG_016461.1:g.36269A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.183A>T (HPD) MANE Select | ENSP00000289004.4:p.Val61= | |
| ENST00000535114.1:n.539A>T (HPD) | ||
| ENST00000542159.2:n.241A>T (HPD) | ||
| ENST00000543163.5:c.66A>T (HPD) | ENSP00000441677.1:p.Val22= | |
| NM_001171993.1:c.66A>T (HPD) | NP_001165464.1:p.Val22= | |
| NM_002150.2:c.183A>T (HPD) | NP_002141.1:p.Val61= | |
| XR_002957437.1:n.324-276T>A (TIALD) | ||
| NM_002150.3:c.183A>T (HPD) MANE Select | NP_002141.2:p.Val61= | |
| NM_001171993.2:c.66A>T (HPD) | NP_001165464.1:p.Val22= |