Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508691G>A , CM000672.2:g.122508691G>A | GRCh38 |
| NC_000010.10:g.124268207G>A , CM000672.1:g.124268207G>A | GRCh37 |
| NC_000010.9:g.124258197G>A | NCBI36 |
| NG_011554.1:g.52167G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1041G>A MANE Select | ENSP00000357980.3:p.Val347= | |
| ENST00000648167.1:c.723G>A | ENSP00000498033.1:p.Val241= | |
| ENST00000368984.7:c.1041G>A | ENSP00000357980.3:p.Val347= | |
| ENST00000420892.1:c.264G>A | ENSP00000412676.1:p.Val88= | |
| NM_002775.4:c.1041G>A | NP_002766.1:p.Val347= | |
| NM_002775.5:c.1041G>A MANE Select | NP_002766.1:p.Val347= |