HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112832734T>A , CM000664.2:g.112832734T>A | GRCh38 |
NC_000002.11:g.113590311T>A , CM000664.1:g.113590311T>A | GRCh37 |
NC_000002.10:g.113306782T>A | NCBI36 |
NG_008851.1:g.9046A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.394A>T MANE Select | ENSP00000263341.2:p.Lys132Ter | |
ENST00000263341.6:c.394A>T | ENSP00000263341.2:p.Lys132Ter | |
ENST00000418817.5:c.394A>T | ENSP00000407219.1:p.Lys132Ter | |
ENST00000487639.1:n.295A>T | ||
ENST00000491056.5:n.1201A>T | ||
NM_000576.2:c.394A>T | NP_000567.1:p.Lys132Ter | |
XM_006712496.1:c.160A>T | XP_006712559.1:p.Lys54Ter | |
XM_017003988.2:c.301A>T | XP_016859477.1:p.Lys101Ter | |
NM_000576.3:c.394A>T MANE Select | NP_000567.1:p.Lys132Ter |