HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117104T>G , CM000669.2:g.19117104T>G | GRCh38 |
NC_000007.13:g.19156727T>G , CM000669.1:g.19156727T>G | GRCh37 |
NC_000007.12:g.19123252T>G | NCBI36 |
NG_008114.1:g.5569A>C | |
NG_008114.2:g.5569A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.218A>C MANE Select | ENSP00000242261.5:p.Lys73Thr | |
ENST00000242261.5:c.218A>C | ENSP00000242261.5:p.Lys73Thr | |
ENST00000354571.5:c.15A>C | ||
NM_000474.3:c.218A>C | NP_000465.1:p.Lys73Thr | |
XM_011515496.1:c.218A>C | XP_011513798.1:p.Lys73Thr | |
NR_149001.1:n.569A>C | ||
NM_000474.4:c.218A>C MANE Select | NP_000465.1:p.Lys73Thr | |
NR_149001.2:n.533A>C |