HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072947T>G , CM000670.2:g.63072947T>G | GRCh38 |
NC_000008.10:g.63985506T>G , CM000670.1:g.63985506T>G | GRCh37 |
NC_000008.9:g.64148060T>G | NCBI36 |
NG_016123.1:g.18107A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260116.5:c.346A>C MANE Select | ENSP00000260116.4:p.Ile116Leu | |
ENST00000260116.4:c.346A>C | ENSP00000260116.4:p.Ile116Leu | |
ENST00000521138.1:n.232+12871A>C | ||
NM_000370.3:c.346A>C MANE Select | NP_000361.1:p.Ile116Leu | |
XM_006716468.2:c.205-8631A>C | XP_006716531.1:n.205-8631A>C | |
XM_006716468.4:c.205-8631A>C | XP_006716531.1:n.205-8631A>C |