HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072980T>G , CM000670.2:g.63072980T>G | GRCh38 |
NC_000008.10:g.63985539T>G , CM000670.1:g.63985539T>G | GRCh37 |
NC_000008.9:g.64148093T>G | NCBI36 |
NG_016123.1:g.18074A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260116.5:c.313A>C MANE Select | ENSP00000260116.4:p.Arg105= | |
ENST00000260116.4:c.313A>C | ENSP00000260116.4:p.Arg105= | |
ENST00000521138.1:n.232+12838A>C | ||
NM_000370.3:c.313A>C MANE Select | NP_000361.1:p.Arg105= | |
XM_006716468.2:c.205-8664A>C | XP_006716531.1:n.205-8664A>C | |
XM_006716468.4:c.205-8664A>C | XP_006716531.1:n.205-8664A>C |