HGVS | Genome Assembly |
---|---|
NC_000011.10:g.59443735T>G , CM000673.2:g.59443735T>G | GRCh38 |
NC_000011.9:g.59211208T>G , CM000673.1:g.59211208T>G | GRCh37 |
NC_000011.8:g.58967784T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641045.1:c.567T>G MANE Select | ENSP00000493195.1:p.Ala189= | |
ENST00000302030.2:c.567T>G | ENSP00000303096.2:p.Ala189= | |
NM_001004728.1:c.567T>G | NP_001004728.1:p.Ala189= | |
XM_011544810.1:c.567T>G | XP_011543112.1:p.Ala189= | |
NM_001004728.2:c.567T>G MANE Select | NP_001004728.1:p.Ala189= |