Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063678G>A , CM000663.2:g.55063678G>A | GRCh38 |
| NC_000001.10:g.55529351G>A , CM000663.1:g.55529351G>A | GRCh37 |
| NC_000001.9:g.55301939G>A | NCBI36 |
| NG_009061.1:g.29132G>A , LRG_275:g.29132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*513G>A | ENSP00000501161.2:n.*513G>A | |
| ENST00000710286.1:c.*94G>A | ENSP00000518176.1:n.*94G>A | |
| ENST00000673903.1:c.*94G>A | ENSP00000501257.1:n.*94G>A | |
| ENST00000302118.5:c.*94G>A MANE Select | ENSP00000303208.5:n.*94G>A | |
| ENST00000490692.1:n.2719G>A | ||
| NM_174936.3:c.*94G>A , LRG_275t1:c.*94G>A | NP_777596.2:n.*94G>A | |
| NR_110451.1:n.1780G>A | ||
| XM_011541193.1:c.*94G>A | XP_011539495.1:n.*94G>A | |
| NM_174936.4:c.*94G>A MANE Select | NP_777596.2:n.*94G>A | |
| NR_110451.2:n.1780G>A |