HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273446T>G , CM000676.2:g.91273446T>G | GRCh38 |
NC_000014.8:g.91739790T>G , CM000676.1:g.91739790T>G | GRCh37 |
NC_000014.7:g.90809543T>G | NCBI36 |
NG_033118.1:g.149399A>C | |
NG_033118.2:g.149399A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5266A>C MANE Select | ENSP00000374507.6:p.Arg1756= | |
ENST00000331194.8:c.838A>C | ENSP00000330332.8:p.Arg280= | |
ENST00000389857.10:c.5266A>C | ENSP00000374507.6:p.Arg1756= | |
ENST00000556726.5:c.1494A>C | ||
NM_001080414.3:c.5266A>C | NP_001073883.2:p.Arg1756= | |
XM_011536796.1:c.5158A>C | XP_011535098.1:p.Arg1720= | |
XM_011536796.2:c.5158A>C | XP_011535098.1:p.Arg1720= | |
XM_017021336.1:c.2347A>C | XP_016876825.1:p.Arg783= | |
NM_001080414.4:c.5266A>C MANE Select | NP_001073883.2:p.Arg1756= |