Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65117535G>A , CM000673.2:g.65117535G>A | GRCh38 |
| NC_000011.9:g.64885007G>A , CM000673.1:g.64885007G>A | GRCh37 |
| NC_000011.8:g.64641583G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310597.6:c.119C>T MANE Select | ENSP00000308548.4:p.Thr40Ile | |
| ENST00000310597.5:c.119C>T | ENSP00000308548.4:p.Thr40Ile | |
| ENST00000528598.1:c.119C>T | ENSP00000436896.1:p.Thr40Ile | |
| NM_014205.3:c.119C>T | NP_055020.1:p.Thr40Ile | |
| NM_014205.4:c.119C>T MANE Select | NP_055020.1:p.Thr40Ile |