Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367846T>C , CM000677.2:g.73367846T>C | GRCh38 |
| NC_000015.9:g.73660187T>C , CM000677.1:g.73660187T>C | GRCh37 |
| NC_000015.8:g.71447240T>C | NCBI36 |
| NG_009063.1:g.6419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.425A>G MANE Select | ENSP00000261917.3:p.Asp142Gly | |
| ENST00000261917.3:c.425A>G | ENSP00000261917.3:p.Asp142Gly | |
| NM_005477.2:c.425A>G | NP_005468.1:p.Asp142Gly | |
| NM_005477.3:c.425A>G MANE Select | NP_005468.1:p.Asp142Gly |