HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789617G>C , CM000664.2:g.135789617G>C | GRCh38 |
NC_000002.11:g.136547187G>C , CM000664.1:g.136547187G>C | GRCh37 |
NC_000002.10:g.136263657G>C | NCBI36 |
NG_008104.2:g.70553C>G , LRG_338:g.70553C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264162.7:c.5517C>G MANE Select | ENSP00000264162.2:p.Gly1839= | |
ENST00000264162.6:c.5517C>G | ENSP00000264162.2:p.Gly1839= | |
NM_002299.2:c.5517C>G , LRG_338t1:c.5517C>G | NP_002290.2:p.Gly1839= | |
NM_002299.3:c.5517C>G | NP_002290.2:p.Gly1839= | |
NM_002299.4:c.5517C>G MANE Select | NP_002290.2:p.Gly1839= |