HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94060881A>C , CM000663.2:g.94060881A>C | GRCh38 |
NC_000001.10:g.94526437A>C , CM000663.1:g.94526437A>C | GRCh37 |
NC_000001.9:g.94299025A>C | NCBI36 |
NG_009073.1:g.65269T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.1938-122T>G MANE Select | ENSP00000359245.3:n.1938-122T>G | |
ENST00000649773.1:c.1938-122T>G | ENSP00000496882.1:n.1938-122T>G | |
ENST00000370225.3:c.1938-122T>G | ENSP00000359245.3:n.1938-122T>G | |
ENST00000472033.1:n.58-122T>G | ||
ENST00000536513.5:c.-65+2293T>G | ENSP00000439707.2:n.-65+2293T>G | |
NM_000350.2:c.1938-122T>G | NP_000341.2:n.1938-122T>G | |
NM_000350.3:c.1938-122T>G MANE Select | NP_000341.2:n.1938-122T>G |