Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157033A>T , CM000681.2:g.55157033A>T | GRCh38 |
| NC_000019.9:g.55668401A>T , CM000681.1:g.55668401A>T | GRCh37 |
| NC_000019.8:g.60360213A>T | NCBI36 |
| NG_007866.2:g.5700T>A , LRG_432:g.5700T>A | |
| NG_032759.1:g.14690T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.108+17T>A MANE Select | ENSP00000341838.5:n.108+17T>A | |
| ENST00000665070.1:c.108+17T>A | ENSP00000499482.1:n.108+17T>A | |
| ENST00000344887.9:c.108+17T>A | ENSP00000341838.5:n.108+17T>A | |
| ENST00000586446.1:n.267T>A | ||
| ENST00000586669.5:n.116+17T>A | ||
| ENST00000587176.5:n.292+17T>A | ||
| ENST00000587871.1:c.727+17T>A | ||
| ENST00000590463.1:n.280+17T>A | ||
| NM_000363.4:c.108+17T>A , LRG_432t1:c.108+17T>A | NP_000354.4:n.108+17T>A | |
| NM_000363.5:c.108+17T>A MANE Select | NP_000354.4:n.108+17T>A |