Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41620695C>A , CM000684.2:g.41620695C>A | GRCh38 |
| NC_000022.10:g.42016699C>A , CM000684.1:g.42016699C>A | GRCh37 |
| NC_000022.9:g.40346645C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015704.3:c.88+57G>T MANE Select | NP_056519.1:n.88+57G>T |
| ENST00000263256.7:c.88+57G>T MANE Select | ENSP00000263256.6:n.88+57G>T |
| NM_015704.2:c.88+57G>T | NP_056519.1:n.88+57G>T |
| ENST00000263256.6:c.88+57G>T | ENSP00000263256.6:n.88+57G>T |
| XM_005261571.3:c.88+57G>T | XP_005261628.1:n.88+57G>T |
| XM_005261571.4:c.88+57G>T | XP_005261628.1:n.88+57G>T |
| XM_011530157.1:c.-127+57G>T | XP_011528459.1:n.-127+57G>T |
| XR_001755216.1:n.326+57G>T |