Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.63976314A>G , CM000673.2:g.63976314A>G | GRCh38 |
| NC_000011.9:g.63743786A>G , CM000673.1:g.63743786A>G | GRCh37 |
| NC_000011.8:g.63500362A>G | NCBI36 |
| NG_046750.1:g.6708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314133.4:c.204A>G MANE Select | ENSP00000321260.3:p.Pro68= | |
| ENST00000314133.3:c.204A>G | ENSP00000321260.3:p.Pro68= | |
| ENST00000535431.1:c.114+1520A>G | ENSP00000475957.1:n.114+1520A>G | |
| NM_004074.2:c.204A>G | NP_004065.1:p.Pro68= | |
| NM_004074.3:c.204A>G MANE Select | NP_004065.1:p.Pro68= |