HGVS | Genome Assembly |
---|---|
NC_000016.10:g.17138446T>G , CM000678.2:g.17138446T>G | GRCh38 |
NC_000016.9:g.17232303T>G , CM000678.1:g.17232303T>G | GRCh37 |
NC_000016.8:g.17139804T>G | NCBI36 |
NG_015843.1:g.337436A>C | |
NG_015843.2:g.337436A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261381.7:c.1673A>C MANE Select | ENSP00000261381.6:p.Lys558Thr | |
ENST00000261381.6:c.1673A>C | ENSP00000261381.6:p.Lys558Thr | |
NM_022166.3:c.1673A>C | NP_071449.1:p.Lys558Thr | |
XM_011522574.1:c.1673A>C | XP_011520876.1:p.Lys558Thr | |
XR_933141.1:n.379T>G | ||
NR_135179.1:n.351T>G | ||
XM_017023539.2:c.1673A>C | XP_016879028.1:p.Lys558Thr | |
XM_017023540.2:c.1673A>C | XP_016879029.1:p.Lys558Thr | |
NM_022166.4:c.1673A>C MANE Select | NP_071449.1:p.Lys558Thr |