Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121858715T>C , CM000674.2:g.121858715T>C | GRCh38 |
| NC_000012.11:g.122296621T>C , CM000674.1:g.122296621T>C | GRCh37 |
| NC_000012.10:g.120781004T>C | NCBI36 |
| NG_016461.1:g.34897A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.4-2A>G (HPD) MANE Select | NP_002141.2:n.4-2A>G |
| ENST00000289004.8:c.4-2A>G (HPD) MANE Select | ENSP00000289004.4:n.4-2A>G |
| NM_001171993.1:c.-114-2A>G (HPD) | NP_001165464.1:n.-114-2A>G |
| NM_001171993.2:c.-114-2A>G (HPD) | NP_001165464.1:n.-114-2A>G |
| NM_002150.2:c.4-2A>G (HPD) | NP_002141.1:n.4-2A>G |
| ENST00000535114.1:n.36-2A>G (HPD) | |
| ENST00000543163.5:c.-114-2A>G (HPD) | ENSP00000441677.1:n.-114-2A>G |
| XR_002957437.1:n.543+877T>C (TIALD) | |
| XR_945467.1:n.89+877T>C (TIALD) |