HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912502A>C , CM000674.2:g.4912502A>C | GRCh38 |
NC_000012.11:g.5021668A>C , CM000674.1:g.5021668A>C | GRCh37 |
NC_000012.10:g.4891929A>C | NCBI36 |
NG_011815.1:g.7596A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1124A>C MANE Select | ENSP00000371985.3:p.Tyr375Ser | |
ENST00000543874.3:n.105+2030A>C | ||
ENST00000639306.1:c.962A>C | ENSP00000492506.1:p.Tyr321Ser | |
ENST00000639680.1:c.76+236A>C | ||
ENST00000382545.3:c.1124A>C | ENSP00000371985.3:p.Tyr375Ser | |
ENST00000541095.1:n.105+2030A>C | ||
ENST00000543874.2:n.96+2030A>C | ||
NM_000217.2:c.1124A>C | NP_000208.2:p.Tyr375Ser | |
NM_000217.3:c.1124A>C MANE Select | NP_000208.2:p.Tyr375Ser |