HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128335455C>A , CM000667.2:g.128335455C>A | GRCh38 |
NC_000005.9:g.127671147C>A , CM000667.1:g.127671147C>A | GRCh37 |
NC_000005.8:g.127699046C>A | NCBI36 |
NG_008750.1:g.207589G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.631G>T | ||
ENST00000703785.1:n.712G>T | ||
ENST00000262464.9:c.3847G>T MANE Select | ENSP00000262464.4:p.Asp1283Tyr | |
ENST00000262464.8:c.3847G>T | ENSP00000262464.4:p.Asp1283Tyr | |
ENST00000507835.5:c.397G>T | ENSP00000426839.1:p.Asp133Tyr | |
ENST00000508053.5:c.3847G>T | ENSP00000424571.1:p.Asp1283Tyr | |
ENST00000508989.5:c.3748G>T | ENSP00000425596.1:p.Asp1250Tyr | |
ENST00000619499.4:c.3844G>T | ENSP00000482132.1:p.Asp1282Tyr | |
NM_001999.3:c.3847G>T | NP_001990.2:p.Asp1283Tyr | |
XM_017009228.2:c.3694G>T | XP_016864717.1:p.Asp1232Tyr | |
NM_001999.4:c.3847G>T MANE Select | NP_001990.2:p.Asp1283Tyr |