HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94041252A>C , CM000663.2:g.94041252A>C | GRCh38 |
NC_000001.10:g.94506808A>C , CM000663.1:g.94506808A>C | GRCh37 |
NC_000001.9:g.94279396A>C | NCBI36 |
NG_009073.1:g.84898T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.3479T>G MANE Select | ENSP00000359245.3:p.Val1160Gly | |
ENST00000370225.3:c.3479T>G | ENSP00000359245.3:p.Val1160Gly | |
ENST00000536513.5:c.-64-1163T>G | ENSP00000439707.2:n.-64-1163T>G | |
NM_000350.2:c.3479T>G | NP_000341.2:p.Val1160Gly | |
NM_000350.3:c.3479T>G MANE Select | NP_000341.2:p.Val1160Gly |