HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116930A>G , CM000669.2:g.19116930A>G | GRCh38 |
NC_000007.13:g.19156553A>G , CM000669.1:g.19156553A>G | GRCh37 |
NC_000007.12:g.19123078A>G | NCBI36 |
NG_008114.1:g.5743T>C | |
NG_008114.2:g.5743T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.392T>C MANE Select | ENSP00000242261.5:p.Leu131Pro | |
ENST00000242261.5:c.392T>C | ENSP00000242261.5:p.Leu131Pro | |
ENST00000354571.5:c.189T>C | ||
NM_000474.3:c.392T>C | NP_000465.1:p.Leu131Pro | |
XM_011515496.1:c.392T>C | XP_011513798.1:p.Leu131Pro | |
NR_149001.1:n.743T>C | ||
NM_000474.4:c.392T>C MANE Select | NP_000465.1:p.Leu131Pro | |
NR_149001.2:n.707T>C |