HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665979G>T , CM000679.2:g.39665979G>T | GRCh38 |
NC_000017.10:g.37822232G>T , CM000679.1:g.37822232G>T | GRCh37 |
NC_000017.9:g.35075758G>T | NCBI36 |
NG_008892.1:g.5634G>T , LRG_210:g.5634G>T | |
NG_042278.1:g.2999G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.374G>T MANE Select | ENSP00000312624.2:p.Gly125Val | |
ENST00000309889.2:c.374G>T | ENSP00000312624.2:p.Gly125Val | |
ENST00000578283.1:c.302G>T | ENSP00000462787.1:p.Gly101Val | |
NM_003673.3:c.374G>T , LRG_210t1:c.374G>T | NP_003664.1:p.Gly125Val | |
NM_003673.4:c.374G>T MANE Select | NP_003664.1:p.Gly125Val |