Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27394286G>T , CM000663.2:g.27394286G>T | GRCh38 |
| NC_000001.10:g.27720790G>T , CM000663.1:g.27720790G>T | GRCh37 |
| NC_000001.9:g.27593377G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374024.4:c.488G>T MANE Select | ENSP00000363136.3:p.Gly163Val | |
| ENST00000374024.3:c.488G>T | ENSP00000363136.3:p.Gly163Val | |
| NM_005281.3:c.488G>T | NP_005272.1:p.Gly163Val | |
| NM_005281.4:c.488G>T MANE Select | NP_005272.1:p.Gly163Val |