HGVS | Genome Assembly |
---|---|
NC_000008.11:g.63072982A>T , CM000670.2:g.63072982A>T | GRCh38 |
NC_000008.10:g.63985541A>T , CM000670.1:g.63985541A>T | GRCh37 |
NC_000008.9:g.64148095A>T | NCBI36 |
NG_016123.1:g.18072T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260116.5:c.311T>A MANE Select | ENSP00000260116.4:p.Leu104Gln | |
ENST00000260116.4:c.311T>A | ENSP00000260116.4:p.Leu104Gln | |
ENST00000521138.1:n.232+12836T>A | ||
NM_000370.3:c.311T>A MANE Select | NP_000361.1:p.Leu104Gln | |
XM_006716468.2:c.205-8666T>A | XP_006716531.1:n.205-8666T>A | |
XM_006716468.4:c.205-8666T>A | XP_006716531.1:n.205-8666T>A |