HGVS | Genome Assembly |
---|---|
NC_000007.14:g.92506319T>G , CM000669.2:g.92506319T>G | GRCh38 |
NC_000007.13:g.92135633T>G , CM000669.1:g.92135633T>G | GRCh37 |
NC_000007.12:g.91973569T>G | NCBI36 |
NG_008341.1:g.27213A>C | |
NG_008341.2:g.27213A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248633.9:c.1829A>C MANE Select | ENSP00000248633.4:p.Lys610Thr | |
ENST00000248633.8:c.1829A>C | ENSP00000248633.4:p.Lys610Thr | |
ENST00000422866.1:c.647A>C | ||
ENST00000428214.5:c.1829A>C | ENSP00000394413.1:p.Lys610Thr | |
ENST00000438045.5:c.863A>C | ENSP00000410438.1:p.Lys288Thr | |
ENST00000484913.5:n.1868A>C | ||
ENST00000496420.5:n.1505A>C | ||
NM_000466.2:c.1829A>C | NP_000457.1:p.Lys610Thr | |
NM_001282677.1:c.1829A>C | NP_001269606.1:p.Lys610Thr | |
NM_001282678.1:c.1205A>C | NP_001269607.1:p.Lys402Thr | |
XM_005250433.3:c.80A>C | XP_005250490.1:p.Lys27Thr | |
XR_242246.3:n.1925A>C | ||
XM_017012319.2:c.80A>C | XP_016867808.1:p.Lys27Thr | |
XR_001744808.2:n.856A>C | ||
XR_242246.5:n.1876A>C | ||
NM_000466.3:c.1829A>C MANE Select | NP_000457.1:p.Lys610Thr | |
NM_001282677.2:c.1829A>C | NP_001269606.1:p.Lys610Thr | |
NM_001282678.2:c.1205A>C | NP_001269607.1:p.Lys402Thr |