Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564772G>T , CM000684.2:g.36564772G>T | GRCh38 |
| NC_000022.10:g.36960819G>T , CM000684.1:g.36960819G>T | GRCh37 |
| NC_000022.9:g.35290765G>T | NCBI36 |
| NG_031861.1:g.142872C>A | |
| NG_031861.2:g.143087C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.551C>A MANE Select | ENSP00000300105.6:p.Ala184Asp | |
| ENST00000300105.6:c.551C>A | ENSP00000300105.6:p.Ala184Asp | |
| NM_006078.3:c.551C>A | NP_006069.1:p.Ala184Asp | |
| NM_006078.4:c.551C>A | NP_006069.1:p.Ala184Asp | |
| XM_017028531.2:c.293C>A | XP_016884020.1:p.Ala98Asp | |
| NM_001379051.1:c.482C>A | NP_001365980.1:p.Ala161Asp | |
| NM_006078.5:c.551C>A MANE Select | NP_006069.1:p.Ala184Asp | |
| NR_166440.1:n.1917C>A |