HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344387G= , CM000667.2:g.128344387G= | GRCh38 |
NC_000005.9:g.127680079G= , CM000667.1:g.127680079G= | GRCh37 |
NC_000005.8:g.127707978G= | NCBI36 |
NG_008750.1:g.198657C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3341C= MANE Select | ENSP00000262464.4:p.Thr1114= | |
ENST00000262464.8:c.3341C= | ENSP00000262464.4:p.Thr1114= | |
ENST00000508053.5:c.3341C= | ENSP00000424571.1:p.Thr1114= | |
ENST00000508989.5:c.3242C= | ENSP00000425596.1:p.Thr1081= | |
ENST00000619499.4:c.3338C= | ENSP00000482132.1:p.Thr1113= | |
NM_001999.3:c.3341C= | NP_001990.2:p.Thr1114= | |
XM_017009228.2:c.3188C= | XP_016864717.1:p.Thr1063= | |
NM_001999.4:c.3341C= MANE Select | NP_001990.2:p.Thr1114= |