Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74304544C>A , CM000685.2:g.74304544C>A | GRCh38 |
| NC_000023.10:g.73524379C>A , CM000685.1:g.73524379C>A | GRCh37 |
| NC_000023.9:g.73441104C>A | NCBI36 |
| NG_021228.1:g.5355C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339534.4:c.278C>A MANE Select | ENSP00000345633.2:p.Thr93Asn | |
| ENST00000339534.3:c.278C>A | ENSP00000345633.2:p.Thr93Asn | |
| NM_203303.2:c.278C>A | NP_976048.1:p.Thr93Asn | |
| NM_203303.3:c.278C>A MANE Select | NP_976048.1:p.Thr93Asn |