HGVS | Genome Assembly |
---|---|
NC_000013.11:g.77920970A>G , CM000675.2:g.77920970A>G | GRCh38 |
NC_000013.10:g.78495105A>G , CM000675.1:g.78495105A>G | GRCh37 |
NC_000013.9:g.77393106A>G | NCBI36 |
NG_011630.2:g.59560T>C | |
NG_011630.3:g.58754T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646948.1:c.-51-2346T>C | ENSP00000493895.1:n.-51-2346T>C | |
NM_000115.3:c.-51-2346T>C | NP_000106.1:n.-51-2346T>C | |
NM_000115.4:c.-51-2346T>C | NP_000106.1:n.-51-2346T>C | |
NM_000115.5:c.-51-2346T>C | NP_000106.1:n.-51-2346T>C |