Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48362813A>T , CM000675.2:g.48362813A>T | GRCh38 |
| NC_000013.10:g.48936949A>T , CM000675.1:g.48936949A>T | GRCh37 |
| NC_000013.9:g.47834950A>T | NCBI36 |
| NG_009009.1:g.64067A>T , LRG_517:g.64067A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.719-2A>T MANE Select | NP_000312.2:n.719-2A>T |
| ENST00000267163.6:c.719-2A>T MANE Select | ENSP00000267163.4:n.719-2A>T |
| NM_000321.2:c.719-2A>T , LRG_517t1:c.719-2A>T | NP_000312.2:n.719-2A>T |
| ENST00000267163.4:c.719-2A>T | ENSP00000267163.4:n.719-2A>T |
| ENST00000467505.5:c.*87-2A>T | ENSP00000434702.1:n.*87-2A>T |
| ENST00000650461.1:c.719-2A>T | ENSP00000497193.1:n.719-2A>T |
| XM_011535171.1:c.458-2A>T | XP_011533473.1:n.458-2A>T |
| XM_011535171.2:c.458-2A>T | XP_011533473.1:n.458-2A>T |