HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519135T>C , CM000674.2:g.52519135T>C | GRCh38 |
NC_000012.11:g.52912919T>C , CM000674.1:g.52912919T>C | GRCh37 |
NC_000012.10:g.51199186T>C | NCBI36 |
NG_008297.1:g.6325A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.581A>G MANE Select | ENSP00000252242.4:p.Lys194Arg | |
ENST00000252242.8:c.581A>G | ENSP00000252242.4:p.Lys194Arg | |
ENST00000549420.1:c.251A>G | ENSP00000447209.1:p.Lys84Arg | |
ENST00000551013.1:n.109A>G | ||
ENST00000552629.5:n.679A>G | ||
NM_000424.3:c.581A>G | NP_000415.2:p.Lys194Arg | |
NM_000424.4:c.581A>G MANE Select | NP_000415.2:p.Lys194Arg |