Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857755A>G , CM000674.2:g.121857755A>G | GRCh38 |
| NC_000012.11:g.122295661A>G , CM000674.1:g.122295661A>G | GRCh37 |
| NC_000012.10:g.120780044A>G | NCBI36 |
| NG_016461.1:g.35857T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.93+2T>C (HPD) MANE Select | NP_002141.2:n.93+2T>C |
| ENST00000289004.8:c.93+2T>C (HPD) MANE Select | ENSP00000289004.4:n.93+2T>C |
| NM_001171993.1:c.-25+2T>C (HPD) | NP_001165464.1:n.-25+2T>C |
| NM_001171993.2:c.-25+2T>C (HPD) | NP_001165464.1:n.-25+2T>C |
| NM_002150.2:c.93+2T>C (HPD) | NP_002141.1:n.93+2T>C |
| ENST00000535114.1:n.127T>C (HPD) | |
| ENST00000543163.5:c.-25+2T>C (HPD) | ENSP00000441677.1:n.-25+2T>C |
| XR_002957437.1:n.460A>G (TIALD) | |
| XR_945467.1:n.6A>G (TIALD) |