HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176119184C>G , CM000664.2:g.176119184C>G | GRCh38 |
NC_000002.11:g.176983912C>G , CM000664.1:g.176983912C>G | GRCh37 |
NC_000002.10:g.176692158C>G | NCBI36 |
NG_008133.2:g.12421C>G , LRG_246:g.12421C>G | |
NG_009225.1:g.1500C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000249501.5:c.976C>G MANE Select | ENSP00000249501.4:p.Arg326Gly | |
ENST00000249501.4:c.976C>G | ENSP00000249501.4:p.Arg326Gly | |
ENST00000490088.2:n.800C>G | ||
ENST00000549469.1:n.847C>G | ||
NM_002148.3:c.976C>G , LRG_246t1:c.976C>G | NP_002139.2:p.Arg326Gly | |
NM_002148.4:c.976C>G MANE Select | NP_002139.2:p.Arg326Gly |