Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65117134G>C , CM000673.2:g.65117134G>C | GRCh38 |
| NC_000011.9:g.64884606G>C , CM000673.1:g.64884606G>C | GRCh37 |
| NC_000011.8:g.64641182G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310597.6:c.520C>G MANE Select | ENSP00000308548.4:p.Pro174Ala | |
| ENST00000310597.5:c.520C>G | ENSP00000308548.4:p.Pro174Ala | |
| ENST00000528598.1:c.148-123C>G | ENSP00000436896.1:n.148-123C>G | |
| NM_014205.3:c.520C>G | NP_055020.1:p.Pro174Ala | |
| NM_014205.4:c.520C>G MANE Select | NP_055020.1:p.Pro174Ala |