Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857432C>G , CM000674.2:g.121857432C>G | GRCh38 |
| NC_000012.11:g.122295338C>G , CM000674.1:g.122295338C>G | GRCh37 |
| NC_000012.10:g.120779721C>G | NCBI36 |
| NG_016461.1:g.36180G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289004.8:c.94G>C (HPD) MANE Select | ENSP00000289004.4:p.Ala32Pro | |
| ENST00000535114.1:n.450G>C (HPD) | ||
| ENST00000542159.2:n.152G>C (HPD) | ||
| ENST00000543163.5:c.-24G>C (HPD) | ENSP00000441677.1:n.-24G>C | |
| NM_001171993.1:c.-24G>C (HPD) | NP_001165464.1:n.-24G>C | |
| NM_002150.2:c.94G>C (HPD) | NP_002141.1:p.Ala32Pro | |
| XR_002957437.1:n.324-187C>G (TIALD) | ||
| NM_002150.3:c.94G>C (HPD) MANE Select | NP_002141.2:p.Ala32Pro | |
| NM_001171993.2:c.-24G>C (HPD) | NP_001165464.1:n.-24G>C |