HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278294G>T , CM000678.2:g.2278294G>T | GRCh38 |
NC_000016.9:g.2328295G>T , CM000678.1:g.2328295G>T | GRCh37 |
NC_000016.8:g.2268296G>T | NCBI36 |
NG_011790.1:g.67453C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4712C>A MANE Select | ENSP00000301732.5:p.Ser1571Tyr | |
ENST00000301732.9:c.4712C>A | ENSP00000301732.5:p.Ser1571Tyr | |
ENST00000382381.7:c.4538C>A | ENSP00000371818.3:p.Ser1513Tyr | |
NM_001089.2:c.4712C>A | NP_001080.2:p.Ser1571Tyr | |
NM_001089.3:c.4712C>A MANE Select | NP_001080.2:p.Ser1571Tyr |