HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075631T>C , CM000679.2:g.8075631T>C | GRCh38 |
NC_000017.10:g.7978949T>C , CM000679.1:g.7978949T>C | GRCh37 |
NC_000017.9:g.7919674T>C | NCBI36 |
NG_007099.1:g.17073A>G | |
NG_007099.2:g.17086A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1618A>G MANE Select | ENSP00000497784.1:p.Ile540Val | |
ENST00000649809.1:c.682A>G | ENSP00000496845.1:p.Ile228Val | |
ENST00000319144.4:c.1618A>G | ENSP00000315167.4:p.Ile540Val | |
ENST00000577351.5:n.479+544A>G | ||
NM_001139.2:c.1618A>G | NP_001130.1:p.Ile540Val | |
NM_001139.3:c.1618A>G MANE Select | NP_001130.1:p.Ile540Val |