Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.125055803T>G , CM000665.2:g.125055803T>G | GRCh38 |
| NC_000003.11:g.124774647T>G , CM000665.1:g.124774647T>G | GRCh37 |
| NC_000003.10:g.126257337T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650592.2:c.88A>C | ENSP00000515478.1:p.Thr30Pro | |
| ENST00000311127.9:c.88A>C MANE Select | ENSP00000311502.3:p.Thr30Pro | |
| ENST00000311127.8:c.88A>C | ENSP00000311502.3:p.Thr30Pro | |
| NM_020733.1:c.88A>C | NP_065784.1:p.Thr30Pro | |
| XM_005247666.1:c.88A>C | XP_005247723.1:p.Thr30Pro | |
| NM_020733.2:c.88A>C MANE Select | NP_065784.1:p.Thr30Pro |