Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121856387C>G , CM000674.2:g.121856387C>G | GRCh38 |
| NC_000012.11:g.122294293C>G , CM000674.1:g.122294293C>G | GRCh37 |
| NC_000012.10:g.120778676C>G | NCBI36 |
| NG_016461.1:g.37225G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.261G>C (HPD) MANE Select | NP_002141.2:p.Val87= |
| ENST00000289004.8:c.261G>C (HPD) MANE Select | ENSP00000289004.4:p.Val87= |
| NM_001171993.1:c.144G>C (HPD) | NP_001165464.1:p.Val48= |
| NM_001171993.2:c.144G>C (HPD) | NP_001165464.1:p.Val48= |
| NM_002150.2:c.261G>C (HPD) | NP_002141.1:p.Val87= |
| ENST00000542159.2:n.297G>C (HPD) | |
| ENST00000543163.5:c.144G>C (HPD) | ENSP00000441677.1:p.Val48= |
| XR_002957437.1:n.64C>G (TIALD) |