Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.127552508A>C , CM000672.2:g.127552508A>C | GRCh38 |
| NC_000010.10:g.129350772A>C , CM000672.1:g.129350772A>C | GRCh37 |
| NC_000010.9:g.129240762A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398023.3:c.139A>C MANE Select | ENSP00000381105.2:p.Thr47Pro | |
| ENST00000398023.2:c.139A>C | ENSP00000381105.1:p.Thr47Pro | |
| NM_001030013.1:c.139A>C | NP_001025184.1:p.Thr47Pro | |
| NM_001030013.2:c.139A>C MANE Select | NP_001025184.1:p.Thr47Pro |