Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28503907A>C , CM000678.2:g.28503907A>C | GRCh38 |
| NC_000016.9:g.28515228A>C , CM000678.1:g.28515228A>C | GRCh37 |
| NC_000016.8:g.28422729A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145659.3:c.175T>G MANE Select | NP_663634.2:p.Ser59Ala |
| ENST00000356897.1:c.175T>G MANE Select | ENSP00000349365.1:p.Ser59Ala |
| ENST00000568075.1:c.-219T>G | ENSP00000455990.1:n.-219T>G |
| XM_011545780.1:c.181T>G | XP_011544082.1:p.Ser61Ala |
| XM_011545780.2:c.181T>G | XP_011544082.1:p.Ser61Ala |