HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94060571G>A , CM000663.2:g.94060571G>A | GRCh38 |
NC_000001.10:g.94526127G>A , CM000663.1:g.94526127G>A | GRCh37 |
NC_000001.9:g.94298715G>A | NCBI36 |
NG_009073.1:g.65579C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2126C>T MANE Select | ENSP00000359245.3:p.Ser709Leu | |
ENST00000649773.1:c.2126C>T | ENSP00000496882.1:p.Ser709Leu | |
ENST00000370225.3:c.2126C>T | ENSP00000359245.3:p.Ser709Leu | |
ENST00000472033.1:n.246C>T | ||
ENST00000536513.5:c.-65+2603C>T | ENSP00000439707.2:n.-65+2603C>T | |
NM_000350.2:c.2126C>T | NP_000341.2:p.Ser709Leu | |
NM_000350.3:c.2126C>T MANE Select | NP_000341.2:p.Ser709Leu |