HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660571G>T , CM000669.2:g.152660571G>T | GRCh38 |
NC_000007.13:g.152357656G>T , CM000669.1:g.152357656G>T | GRCh37 |
NC_000007.12:g.151988589G>T | NCBI36 |
NG_027988.1:g.20595C>A | |
NG_027988.2:g.20595C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-47-11208C>A | ENSP00000513758.1:n.-47-11208C>A | |
ENST00000698507.1:n.319C>A | ||
ENST00000359321.2:c.121+130C>A MANE Select | ENSP00000352271.1:n.121+130C>A | |
ENST00000359321.1:c.121+130C>A | ENSP00000352271.1:n.121+130C>A | |
ENST00000495707.1:n.143+130C>A | ||
NM_005431.1:c.121+130C>A | NP_005422.1:n.121+130C>A | |
NM_005431.2:c.121+130C>A MANE Select | NP_005422.1:n.121+130C>A |