HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045623G>T , CM000674.2:g.5045623G>T | GRCh38 |
NC_000012.11:g.5154789G>T , CM000674.1:g.5154789G>T | GRCh37 |
NC_000012.10:g.5025050G>T | NCBI36 |
NG_012198.1:g.6705G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.1476G>T MANE Select | ENSP00000252321.3:p.Gly492= | |
ENST00000252321.4:c.1476G>T | ENSP00000252321.3:p.Gly492= | |
NM_002234.3:c.1476G>T | NP_002225.2:p.Gly492= | |
NM_002234.4:c.1476G>T MANE Select | NP_002225.2:p.Gly492= |