Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786644C>G , CM000666.2:g.786644C>G | GRCh38 |
| NC_000004.11:g.780432C>G , CM000666.1:g.780432C>G | GRCh37 |
| NC_000004.10:g.770432C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.262G>C MANE Select | ENSP00000305613.6:p.Ala88Pro | |
| ENST00000304062.10:c.262G>C | ENSP00000305613.6:p.Ala88Pro | |
| ENST00000504062.1:c.217G>C | ENSP00000421947.1:p.Ala73Pro | |
| ENST00000505203.1:c.199G>C | ENSP00000425960.1:p.Ala67Pro | |
| ENST00000506404.1:n.315G>C | ||
| NM_006651.3:c.262G>C | NP_006642.1:p.Ala88Pro | |
| XM_011513391.1:c.217G>C | XP_011511693.1:p.Ala73Pro | |
| NM_006651.4:c.262G>C MANE Select | NP_006642.1:p.Ala88Pro |