HGVS | Genome Assembly |
---|---|
NC_000009.12:g.99221646G>C , CM000671.2:g.99221646G>C | GRCh38 |
NC_000009.11:g.101983928G>C , CM000671.1:g.101983928G>C | GRCh37 |
NC_000009.10:g.101023749G>C | NCBI36 |
NG_008928.1:g.5319C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476832.2:c.249C>G MANE Select | ENSP00000417764.1:p.Gly83= | |
ENST00000238477.5:c.249C>G | ENSP00000432675.2:p.Gly83= | |
ENST00000476832.1:c.249C>G | ENSP00000417764.1:p.Gly83= | |
NM_033087.3:c.249C>G | NP_149078.1:p.Gly83= | |
NR_024532.1:n.319C>G | ||
NM_033087.4:c.249C>G MANE Select | NP_149078.1:p.Gly83= | |
NR_024532.2:n.297C>G |