HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917565G>T , CM000685.2:g.29917565G>T | GRCh38 |
NC_000023.10:g.29935682G>T , CM000685.1:g.29935682G>T | GRCh37 |
NC_000023.9:g.29845603G>T | NCBI36 |
NG_008292.1:g.1335002G>T | |
NG_008292.2:g.1335002G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.880G>T MANE Select | ENSP00000368278.1:p.Asp294Tyr | |
ENST00000302196.5:c.103G>T | ENSP00000305200.5:p.Asp35Tyr | |
ENST00000378993.5:c.880G>T | ENSP00000368278.1:p.Asp294Tyr | |
NM_014271.3:c.880G>T | NP_055086.1:p.Asp294Tyr | |
XM_005274441.1:c.880G>T | XP_005274498.1:p.Asp294Tyr | |
XM_011545445.1:c.880G>T | XP_011543747.1:p.Asp294Tyr | |
XM_017029240.1:c.880G>T | XP_016884729.1:p.Asp294Tyr | |
XM_017029241.1:c.502G>T | XP_016884730.1:p.Asp168Tyr | |
NM_014271.4:c.880G>T MANE Select | NP_055086.1:p.Asp294Tyr |