HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40405754T>C , CM000677.2:g.40405754T>C | GRCh38 |
NC_000015.9:g.40697955T>C , CM000677.1:g.40697955T>C | GRCh37 |
NC_000015.8:g.38485247T>C | NCBI36 |
NG_011986.1:g.5270T>C | |
NG_011986.2:g.5270T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650656.1:c.-65T>C | ENSP00000498731.1:n.-65T>C | |
ENST00000651168.1:c.-65T>C | ENSP00000499074.1:n.-65T>C | |
NM_001159508.1:c.-65T>C | NP_001152980.1:n.-65T>C | |
NM_002225.3:c.-65T>C | NP_002216.2:n.-65T>C | |
XR_429453.2:n.37T>C |