Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65117430C>A , CM000673.2:g.65117430C>A | GRCh38 |
| NC_000011.9:g.64884902C>A , CM000673.1:g.64884902C>A | GRCh37 |
| NC_000011.8:g.64641478C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310597.6:c.224G>T MANE Select | ENSP00000308548.4:p.Arg75Leu | |
| ENST00000310597.5:c.224G>T | ENSP00000308548.4:p.Arg75Leu | |
| ENST00000528598.1:c.147+77G>T | ENSP00000436896.1:n.147+77G>T | |
| NM_014205.3:c.224G>T | NP_055020.1:p.Arg75Leu | |
| NM_014205.4:c.224G>T MANE Select | NP_055020.1:p.Arg75Leu |