HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44380995T>G , CM000679.2:g.44380995T>G | GRCh38 |
NC_000017.10:g.42458363T>G , CM000679.1:g.42458363T>G | GRCh37 |
NC_000017.9:g.39813889T>G | NCBI36 |
NG_008331.1:g.13511A>C , LRG_479:g.13511A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.1277A>C MANE Select | ENSP00000262407.5:p.Gln426Pro | |
ENST00000648408.1:c.708A>C | ||
ENST00000262407.5:c.1277A>C | ENSP00000262407.5:p.Gln426Pro | |
ENST00000592226.5:n.517A>C | ||
ENST00000592462.5:n.72A>C | ||
NM_000419.3:c.1277A>C , LRG_479t1:c.1277A>C | NP_000410.2:p.Gln426Pro | |
XM_011524749.1:c.1277A>C | XP_011523051.1:p.Gln426Pro | |
XM_011524750.1:c.1277A>C | XP_011523052.1:p.Gln426Pro | |
NM_000419.4:c.1277A>C | NP_000410.2:p.Gln426Pro | |
NM_000419.5:c.1277A>C MANE Select | NP_000410.2:p.Gln426Pro |