Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69005993C>A , CM000673.2:g.69005993C>A | GRCh38 |
| NC_000011.9:g.68773461C>A , CM000673.1:g.68773461C>A | GRCh37 |
| NC_000011.8:g.68530037C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309099.7:c.317G>T MANE Select | ENSP00000309782.6:p.Gly106Val | |
| ENST00000309099.6:c.317G>T | ENSP00000309782.6:p.Gly106Val | |
| ENST00000441623.1:c.317G>T | ENSP00000403660.1:p.Gly106Val | |
| NM_001098515.1:c.317G>T | NP_001091985.1:p.Gly106Val | |
| NM_145015.4:c.317G>T | NP_659452.3:p.Gly106Val | |
| XM_017017170.1:c.317G>T | XP_016872659.1:p.Gly106Val | |
| XM_024448339.1:c.317G>T | XP_024304107.1:p.Gly106Val | |
| NM_145015.5:c.317G>T MANE Select | NP_659452.3:p.Gly106Val | |
| NM_001098515.2:c.317G>T | NP_001091985.1:p.Gly106Val |