Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157687G>T , CM000681.2:g.55157687G>T | GRCh38 |
| NC_000019.9:g.55669055G>T , CM000681.1:g.55669055G>T | GRCh37 |
| NC_000019.8:g.60360867G>T | NCBI36 |
| NG_007866.2:g.5046C>A , LRG_432:g.5046C>A | |
| NG_032759.1:g.14036C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.-98C>A MANE Select | NP_000354.4:n.-98C>A |
| ENST00000344887.10:c.-98C>A MANE Select | ENSP00000341838.5:n.-98C>A |
| NM_000363.4:c.-98C>A , LRG_432t1:c.-98C>A | NP_000354.4:n.-98C>A |
| ENST00000344887.9:c.-98C>A | ENSP00000341838.5:n.-98C>A |
| ENST00000586446.1:n.46C>A | |
| ENST00000587176.5:n.87C>A | |
| ENST00000587871.1:c.523C>A | |
| ENST00000590463.1:n.30C>A | |
| ENST00000665070.1:c.-98C>A | ENSP00000499482.1:n.-98C>A |