Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038248C>G , CM000666.2:g.52038248C>G | GRCh38 |
| NC_000004.11:g.52904414C>G , CM000666.1:g.52904414C>G | GRCh37 |
| NC_000004.10:g.52599171C>G | NCBI36 |
| NG_008891.1:g.5072G>C , LRG_204:g.5072G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.12G>C MANE Select | NP_000223.1:p.Ala4= |
| ENST00000381431.10:c.12G>C MANE Select | ENSP00000370839.6:p.Ala4= |
| NM_000232.4:c.12G>C , LRG_204t1:c.12G>C | NP_000223.1:p.Ala4= |
| ENST00000381431.9:c.12G>C | ENSP00000370839.5:p.Ala4= |
| XM_011534403.1:c.12G>C | XP_011532705.1:p.Ala4= |