HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21006719G>C , CM000664.2:g.21006719G>C | GRCh38 |
NC_000002.11:g.21229591G>C , CM000664.1:g.21229591G>C | GRCh37 |
NC_000002.10:g.21083096G>C | NCBI36 |
NG_011793.1:g.42355C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000233242.5:c.10149C>G MANE Select | ENSP00000233242.1:p.Gly3383= | |
ENST00000616098.4:c.10149C>G | ENSP00000477990.1:p.Gly3383= | |
NM_000384.2:c.10149C>G | NP_000375.2:p.Gly3383= | |
XM_011532809.1:c.5869+4014C>G | XP_011531111.1:n.5869+4014C>G | |
NM_000384.3:c.10149C>G MANE Select | NP_000375.3:p.Gly3383= |