Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3084303C>T , CM000682.2:g.3084303C>T | GRCh38 |
| NC_000020.10:g.3064949C>T , CM000682.1:g.3064949C>T | GRCh37 |
| NC_000020.9:g.3012949C>T | NCBI36 |
| NG_008663.1:g.5422G>A , LRG_715:g.5422G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000490.5:c.120+252G>A MANE Select | NP_000481.2:n.120+252G>A |
| ENST00000380293.3:c.120+252G>A MANE Select | ENSP00000369647.3:n.120+252G>A |
| NM_000490.4:c.120+252G>A , LRG_715t1:c.120+252G>A | NP_000481.2:n.120+252G>A |
| XM_011529267.1:c.120+252G>A | XP_011527569.1:n.120+252G>A |
| XM_011529267.2:c.120+252G>A | XP_011527569.1:n.120+252G>A |