Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88805601C>T , CM000678.2:g.88805601C>T | GRCh38 |
| NC_000016.9:g.88872009C>T , CM000678.1:g.88872009C>T | GRCh37 |
| NC_000016.8:g.87399510C>T | NCBI36 |
| NG_028266.1:g.6824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301019.9:c.650C>T MANE Select | ENSP00000301019.4:p.Ala217Val | |
| ENST00000301019.8:c.650C>T | ENSP00000301019.4:p.Ala217Val | |
| ENST00000562747.1:n.356C>T | ||
| NM_030928.3:c.650C>T | NP_112190.2:p.Ala217Val | |
| NM_030928.4:c.650C>T MANE Select | NP_112190.2:p.Ala217Val |