Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86085058C>A , CM000671.2:g.86085058C>A | GRCh38 |
| NC_000009.11:g.88699973C>A , CM000671.1:g.88699973C>A | GRCh37 |
| NC_000009.10:g.87889793C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388711.7:c.-21-5717G>T | ENSP00000373363.3:n.-21-5717G>T | |
| ENST00000388712.7:c.-21-5717G>T MANE Select | ENSP00000373364.3:n.-21-5717G>T | |
| ENST00000466178.1:c.-141-19G>T | ENSP00000418155.1:n.-141-19G>T | |
| ENST00000472919.1:n.150-5717G>T | ||
| NM_016548.3:c.-21-5717G>T | NP_057632.2:n.-21-5717G>T | |
| NM_177937.2:c.-21-5717G>T | NP_808800.1:n.-21-5717G>T | |
| NM_016548.4:c.-21-5717G>T MANE Select | NP_057632.2:n.-21-5717G>T | |
| NM_177937.3:c.-21-5717G>T | NP_808800.1:n.-21-5717G>T |