HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665780G>C , CM000679.2:g.39665780G>C | GRCh38 |
NC_000017.10:g.37822033G>C , CM000679.1:g.37822033G>C | GRCh37 |
NC_000017.9:g.35075559G>C | NCBI36 |
NG_008892.1:g.5435G>C , LRG_210:g.5435G>C | |
NG_042278.1:g.2800G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.175G>C MANE Select | ENSP00000312624.2:p.Val59Leu | |
ENST00000309889.2:c.175G>C | ENSP00000312624.2:p.Val59Leu | |
ENST00000578283.1:c.174+1G>C | ENSP00000462787.1:n.174+1G>C | |
NM_003673.3:c.175G>C , LRG_210t1:c.175G>C | NP_003664.1:p.Val59Leu | |
NM_003673.4:c.175G>C MANE Select | NP_003664.1:p.Val59Leu |