Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142137793G>T , CM000667.2:g.142137793G>T | GRCh38 |
| NC_000005.9:g.141517358G>T , CM000667.1:g.141517358G>T | GRCh37 |
| NC_000005.8:g.141497542G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030571.4:c.430G>T MANE Select | NP_085048.1:p.Ala144Ser |
| ENST00000253814.6:c.430G>T MANE Select | ENSP00000253814.3:p.Ala144Ser |
| NM_030571.3:c.430G>T | NP_085048.1:p.Ala144Ser |
| ENST00000253814.5:c.430G>T | ENSP00000253814.3:p.Ala144Ser |
| ENST00000505614.1:n.148G>T |