Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157591C>T , CM000681.2:g.55157591C>T | GRCh38 |
| NC_000019.9:g.55668959C>T , CM000681.1:g.55668959C>T | GRCh37 |
| NC_000019.8:g.60360771C>T | NCBI36 |
| NG_007866.2:g.5142G>A , LRG_432:g.5142G>A | |
| NG_032759.1:g.14132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.-2G>A MANE Select | ENSP00000341838.5:n.-2G>A | |
| ENST00000665070.1:c.-2G>A | ENSP00000499482.1:n.-2G>A | |
| ENST00000344887.9:c.-2G>A | ENSP00000341838.5:n.-2G>A | |
| ENST00000586446.1:n.142G>A | ||
| ENST00000587176.5:n.183G>A | ||
| ENST00000587871.1:c.619G>A | ||
| ENST00000590463.1:n.126G>A | ||
| NM_000363.4:c.-2G>A , LRG_432t1:c.-2G>A | NP_000354.4:n.-2G>A | |
| NM_000363.5:c.-2G>A MANE Select | NP_000354.4:n.-2G>A |