HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20769235C= , CM000686.2:g.20769235C= | GRCh38 |
NC_000024.9:g.22931121C= , CM000686.1:g.22931121C= | GRCh37 |
NC_000024.8:g.21340509C= | NCBI36 |
NG_032924.1:g.18168C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000629237.2:c.532+259C= MANE Select | ENSP00000486252.1:n.532+259C= | |
ENST00000629237.1:c.532+259C= | ENSP00000486252.1:n.532+259C= | |
NM_001039567.2:c.532+259C= | NP_001034656.1:n.532+259C= | |
XM_011531423.1:c.481+259C= | XP_011529725.1:n.481+259C= | |
NM_001039567.3:c.532+259C= MANE Select | NP_001034656.1:n.532+259C= |