Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32528467G>C , CM000665.2:g.32528467G>C | GRCh38 |
| NC_000003.11:g.32569959G>C , CM000665.1:g.32569959G>C | GRCh37 |
| NC_000003.10:g.32544963G>C | NCBI36 |
| NG_051046.1:g.47458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273130.9:c.1441C>G MANE Select | ENSP00000273130.4:p.Pro481Ala | |
| ENST00000273130.8:c.1441C>G | ENSP00000273130.4:p.Pro481Ala | |
| ENST00000432458.6:c.1093C>G | ENSP00000407279.2:p.Pro365Ala | |
| ENST00000481915.5:n.3961C>G | ||
| NM_016141.3:c.1441C>G | NP_057225.2:p.Pro481Ala | |
| NM_001329135.1:c.1093C>G | NP_001316064.1:p.Pro365Ala | |
| NM_016141.4:c.1441C>G MANE Select | NP_057225.2:p.Pro481Ala | |
| NM_001329135.2:c.1093C>G | NP_001316064.1:p.Pro365Ala |