HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344397T>G , CM000667.2:g.128344397T>G | GRCh38 |
NC_000005.9:g.127680089T>G , CM000667.1:g.127680089T>G | GRCh37 |
NC_000005.8:g.127707988T>G | NCBI36 |
NG_008750.1:g.198647A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3331A>C MANE Select | ENSP00000262464.4:p.Arg1111= | |
ENST00000262464.8:c.3331A>C | ENSP00000262464.4:p.Arg1111= | |
ENST00000508053.5:c.3331A>C | ENSP00000424571.1:p.Arg1111= | |
ENST00000508989.5:c.3232A>C | ENSP00000425596.1:p.Arg1078= | |
ENST00000619499.4:c.3328A>C | ENSP00000482132.1:p.Arg1110= | |
NM_001999.3:c.3331A>C | NP_001990.2:p.Arg1111= | |
XM_017009228.2:c.3178A>C | XP_016864717.1:p.Arg1060= | |
NM_001999.4:c.3331A>C MANE Select | NP_001990.2:p.Arg1111= |