HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21011372T>C , CM000664.2:g.21011372T>C | GRCh38 |
NC_000002.11:g.21234244T>C , CM000664.1:g.21234244T>C | GRCh37 |
NC_000002.10:g.21087749T>C | NCBI36 |
NG_011793.1:g.37702A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*4802A>G | ENSP00000501110.2:n.*4802A>G | |
ENST00000673739.1:c.5210A>G | ENSP00000501110.1:n.5210A>G | |
ENST00000233242.5:c.5496A>G MANE Select | ENSP00000233242.1:p.Gln1832= | |
ENST00000616098.4:c.5496A>G | ENSP00000477990.1:p.Gln1832= | |
NM_000384.2:c.5496A>G | NP_000375.2:p.Gln1832= | |
XM_011532809.1:c.5496A>G | XP_011531111.1:p.Gln1832= | |
NM_000384.3:c.5496A>G MANE Select | NP_000375.3:p.Gln1832= |