Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33070391A>T , CM000683.2:g.33070391A>T | GRCh38 |
| NC_000021.8:g.34442697A>T , CM000683.1:g.34442697A>T | GRCh37 |
| NC_000021.7:g.33364567A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138983.3:c.145A>T MANE Select | NP_620450.2:p.Thr49Ser |
| ENST00000382348.2:c.145A>T MANE Select | ENSP00000371785.1:p.Thr49Ser |
| NM_138983.2:c.145A>T | NP_620450.2:p.Thr49Ser |
| ENST00000382348.1:c.145A>T | ENSP00000371785.1:p.Thr49Ser |