Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130383784C>T , CM000669.2:g.130383784C>T | GRCh38 |
| NC_000007.13:g.130023625C>T , CM000669.1:g.130023625C>T | GRCh37 |
| NC_000007.12:g.129810861C>T | NCBI36 |
| NG_042276.1:g.8414C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.686C>T MANE Select | NP_001859.1:p.Thr229Met |
| ENST00000011292.8:c.686C>T MANE Select | ENSP00000011292.3:p.Thr229Met |
| NM_001868.3:c.686C>T | NP_001859.1:p.Thr229Met |
| ENST00000011292.7:c.686C>T | ENSP00000011292.3:p.Thr229Met |
| ENST00000470838.1:n.86C>T | |
| ENST00000476062.5:c.422C>T | ENSP00000419408.1:p.Thr141Met |
| ENST00000479106.1:n.1C>T | |
| ENST00000484324.1:c.422C>T | ENSP00000419497.1:p.Thr141Met |
| ENST00000491460.5:n.648C>T | |
| ENST00000604896.5:c.242C>T | ENSP00000475021.1:p.Thr81Met |