Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857385G>T , CM000674.2:g.121857385G>T | GRCh38 |
| NC_000012.11:g.122295291G>T , CM000674.1:g.122295291G>T | GRCh37 |
| NC_000012.10:g.120779674G>T | NCBI36 |
| NG_016461.1:g.36227C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.141C>A (HPD) MANE Select | ENSP00000289004.4:p.Tyr47Ter | |
| ENST00000535114.1:n.497C>A (HPD) | ||
| ENST00000542159.2:n.199C>A (HPD) | ||
| ENST00000543163.5:c.24C>A (HPD) | ENSP00000441677.1:p.Tyr8Ter | |
| NM_001171993.1:c.24C>A (HPD) | NP_001165464.1:p.Tyr8Ter | |
| NM_002150.2:c.141C>A (HPD) | NP_002141.1:p.Tyr47Ter | |
| XR_002957437.1:n.324-234G>T (TIALD) | ||
| NM_002150.3:c.141C>A (HPD) MANE Select | NP_002141.2:p.Tyr47Ter | |
| NM_001171993.2:c.24C>A (HPD) | NP_001165464.1:p.Tyr8Ter |