HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764481A>C , CM000674.2:g.57764481A>C | GRCh38 |
NC_000012.11:g.58158264A>C , CM000674.1:g.58158264A>C | GRCh37 |
NC_000012.10:g.56444531A>C | NCBI36 |
NG_007076.1:g.7713T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1114T>G | ENSP00000518840.1:p.Ser372Ala | |
ENST00000713545.1:c.*38T>G | ENSP00000518841.1:n.*38T>G | |
ENST00000228606.9:c.1033T>G MANE Select | ENSP00000228606.4:p.Ser345Ala | |
ENST00000228606.8:c.1033T>G | ENSP00000228606.4:p.Ser345Ala | |
ENST00000546567.5:c.328T>G | ENSP00000449472.1:p.Ser110Ala | |
ENST00000547344.5:n.1172T>G | ||
NM_000785.3:c.1033T>G | NP_000776.1:p.Ser345Ala | |
NM_000785.4:c.1033T>G MANE Select | NP_000776.1:p.Ser345Ala |