Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180739500C>T , CM000667.2:g.180739500C>T | GRCh38 |
| NC_000005.9:g.180166500C>T , CM000667.1:g.180166500C>T | GRCh37 |
| NC_000005.8:g.180099106C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001657.1:c.559G>A MANE Select | NP_001001657.1:p.Ala187Thr |
| ENST00000307832.3:c.559G>A MANE Select | ENSP00000312403.2:p.Ala187Thr |
| ENST00000307832.2:c.559G>A | ENSP00000312403.2:p.Ala187Thr |