HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48134288C>A , CM000677.2:g.48134288C>A | GRCh38 |
NC_000015.9:g.48426485C>A , CM000677.1:g.48426485C>A | GRCh37 |
NC_000015.8:g.46213777C>A | NCBI36 |
NG_011500.1:g.18317C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341459.8:c.332C>A MANE Select | ENSP00000341550.3:p.Thr111Lys | |
ENST00000341459.7:c.332C>A | ENSP00000341550.3:p.Thr111Lys | |
ENST00000449382.2:c.152C>A | ENSP00000389966.2:p.Thr51Lys | |
ENST00000463289.1:n.92C>A | ||
NM_205850.2:c.332C>A | NP_995322.1:p.Thr111Lys | |
XM_011521458.1:c.332C>A | XP_011519760.1:p.Thr111Lys | |
XM_017022079.1:c.-8C>A | XP_016877568.1:n.-8C>A | |
XM_017022080.1:c.-8C>A | XP_016877569.1:n.-8C>A | |
XM_024449901.1:c.-8C>A | XP_024305669.1:n.-8C>A | |
NM_205850.3:c.332C>A MANE Select | NP_995322.1:p.Thr111Lys |