HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551492G>C , CM000681.2:g.43551492G>C | GRCh38 |
NC_000019.9:g.44055644G>C , CM000681.1:g.44055644G>C | GRCh37 |
NC_000019.8:g.48747484G>C | NCBI36 |
NG_033799.1:g.29087C>G , LRG_784:g.29087C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262887.10:c.1199+79C>G MANE Select | ENSP00000262887.5:n.1199+79C>G | |
ENST00000262887.9:c.1199+79C>G | ENSP00000262887.4:n.1199+79C>G | |
ENST00000543982.5:c.1106+79C>G | ENSP00000443671.1:n.1106+79C>G | |
NM_006297.2:c.1199+79C>G , LRG_784t1:c.1199+79C>G | NP_006288.2:n.1199+79C>G | |
NM_006297.3:c.1199+79C>G MANE Select | NP_006288.2:n.1199+79C>G |