HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192536T>C , CM000685.2:g.50192536T>C | GRCh38 |
NC_000023.10:g.49957187T>C , CM000685.1:g.49957187T>C | GRCh37 |
NC_000023.9:g.49843927T>C | NCBI36 |
NG_012552.1:g.13478A>G | |
NG_012552.2:g.13478A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2177A>G MANE Select | ENSP00000351327.2:p.Glu726Gly | |
ENST00000358526.6:c.2177A>G | ENSP00000351327.2:p.Glu726Gly | |
ENST00000376064.7:c.2150A>G | ENSP00000365232.3:p.Glu717Gly | |
ENST00000481402.5:n.2289A>G | ||
NM_003886.2:c.2177A>G | NP_003877.2:p.Glu726Gly | |
NM_139289.1:c.2150A>G | NP_647450.1:p.Glu717Gly | |
NM_003886.3:c.2177A>G MANE Select | NP_003877.2:p.Glu726Gly | |
NM_139289.2:c.2150A>G | NP_647450.1:p.Glu717Gly |