HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44379781T>C , CM000679.2:g.44379781T>C | GRCh38 |
NC_000017.10:g.42457149T>C , CM000679.1:g.42457149T>C | GRCh37 |
NC_000017.9:g.39812675T>C | NCBI36 |
NG_008331.1:g.14725A>G , LRG_479:g.14725A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.1786A>G MANE Select | ENSP00000262407.5:p.Ile596Val | |
ENST00000648408.1:c.1217A>G | ||
ENST00000262407.5:c.1786A>G | ENSP00000262407.5:p.Ile596Val | |
ENST00000592462.5:n.581A>G | ||
NM_000419.3:c.1786A>G , LRG_479t1:c.1786A>G | NP_000410.2:p.Ile596Val | |
XM_011524749.1:c.1786A>G | XP_011523051.1:p.Ile596Val | |
XM_011524750.1:c.1786A>G | XP_011523052.1:p.Ile596Val | |
NM_000419.4:c.1786A>G | NP_000410.2:p.Ile596Val | |
NM_000419.5:c.1786A>G MANE Select | NP_000410.2:p.Ile596Val |