HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272700G>C , CM000676.2:g.91272700G>C | GRCh38 |
NC_000014.8:g.91739044G>C , CM000676.1:g.91739044G>C | GRCh37 |
NC_000014.7:g.90808797G>C | NCBI36 |
NG_033118.1:g.150145C>G | |
NG_033118.2:g.150145C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.6012C>G MANE Select | ENSP00000374507.6:p.Val2004= | |
ENST00000331194.8:c.1446C>G | ENSP00000330332.8:p.Val482= | |
ENST00000389857.10:c.6012C>G | ENSP00000374507.6:p.Val2004= | |
ENST00000556726.5:c.2240C>G | ||
NM_001080414.3:c.6012C>G | NP_001073883.2:p.Val2004= | |
XM_011536796.1:c.5904C>G | XP_011535098.1:p.Val1968= | |
XM_011536796.2:c.5904C>G | XP_011535098.1:p.Val1968= | |
XM_017021336.1:c.3093C>G | XP_016876825.1:p.Val1031= | |
NM_001080414.4:c.6012C>G MANE Select | NP_001073883.2:p.Val2004= |