Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886510C>T , CM000663.2:g.159886510C>T | GRCh38 |
| NC_000001.10:g.159856300C>T , CM000663.1:g.159856300C>T | GRCh37 |
| NC_000001.9:g.158122924C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.767+1G>A MANE Select | ENSP00000357079.4:n.767+1G>A | |
| ENST00000368099.8:c.767+1G>A | ENSP00000357079.4:n.767+1G>A | |
| ENST00000426543.6:c.512+1G>A | ENSP00000403044.2:n.512+1G>A | |
| ENST00000476696.5:c.767+1G>A | ENSP00000483972.1:n.767+1G>A | |
| NM_012337.2:c.767+1G>A | NP_036469.2:n.767+1G>A | |
| NM_012337.3:c.767+1G>A MANE Select | NP_036469.2:n.767+1G>A |