Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038242C>T , CM000666.2:g.52038242C>T | GRCh38 |
| NC_000004.11:g.52904408C>T , CM000666.1:g.52904408C>T | GRCh37 |
| NC_000004.10:g.52599165C>T | NCBI36 |
| NG_008891.1:g.5078G>A , LRG_204:g.5078G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.18G>A MANE Select | NP_000223.1:p.Ala6= |
| ENST00000381431.10:c.18G>A MANE Select | ENSP00000370839.6:p.Ala6= |
| NM_000232.4:c.18G>A , LRG_204t1:c.18G>A | NP_000223.1:p.Ala6= |
| ENST00000381431.9:c.18G>A | ENSP00000370839.5:p.Ala6= |
| ENST00000506357.5:c.4G>A | |
| XM_011534403.1:c.18G>A | XP_011532705.1:p.Ala6= |