HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21002192C= , CM000664.2:g.21002192C= | GRCh38 |
NC_000002.11:g.21225064C= , CM000664.1:g.21225064C= | GRCh37 |
NC_000002.10:g.21078569C= | NCBI36 |
NG_011793.1:g.46882G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.13230G= MANE Select | ENSP00000233242.1:p.Leu4410= | |
ENST00000616098.4:c.13228G= | ENSP00000477990.1:n.13228G= | |
NM_000384.2:c.13230G= | NP_000375.2:p.Leu4410= | |
XM_011532809.1:c.5870-2919G= | XP_011531111.1:n.5870-2919G= | |
NM_000384.3:c.13230G= MANE Select | NP_000375.3:p.Leu4410= |