HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344386C>A , CM000667.2:g.128344386C>A | GRCh38 |
NC_000005.9:g.127680078C>A , CM000667.1:g.127680078C>A | GRCh37 |
NC_000005.8:g.127707977C>A | NCBI36 |
NG_008750.1:g.198658G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3342G>T MANE Select | ENSP00000262464.4:p.Thr1114= | |
ENST00000262464.8:c.3342G>T | ENSP00000262464.4:p.Thr1114= | |
ENST00000508053.5:c.3342G>T | ENSP00000424571.1:p.Thr1114= | |
ENST00000508989.5:c.3243G>T | ENSP00000425596.1:p.Thr1081= | |
ENST00000619499.4:c.3339G>T | ENSP00000482132.1:p.Thr1113= | |
NM_001999.3:c.3342G>T | NP_001990.2:p.Thr1114= | |
XM_017009228.2:c.3189G>T | XP_016864717.1:p.Thr1063= | |
NM_001999.4:c.3342G>T MANE Select | NP_001990.2:p.Thr1114= |