HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6770422T>C , CM000682.2:g.6770422T>C | GRCh38 |
NC_000020.10:g.6751069T>C , CM000682.1:g.6751069T>C | GRCh37 |
NC_000020.9:g.6699069T>C | NCBI36 |
NG_023233.1:g.7325T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378827.5:c.296T>C MANE Select | ENSP00000368104.3:p.Leu99Ser | |
ENST00000378827.4:c.296T>C | ENSP00000368104.3:p.Leu99Ser | |
NM_001200.2:c.296T>C | NP_001191.1:p.Leu99Ser | |
XM_011529323.1:c.-123+1547T>C | XP_011527625.1:n.-123+1547T>C | |
NM_001200.3:c.296T>C | NP_001191.1:p.Leu99Ser | |
NM_001200.4:c.296T>C MANE Select | NP_001191.1:p.Leu99Ser |