HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660589A>G , CM000669.2:g.152660589A>G | GRCh38 |
NC_000007.13:g.152357674A>G , CM000669.1:g.152357674A>G | GRCh37 |
NC_000007.12:g.151988607A>G | NCBI36 |
NG_027988.1:g.20577T>C | |
NG_027988.2:g.20577T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-47-11226T>C | ENSP00000513758.1:n.-47-11226T>C | |
ENST00000698507.1:n.301T>C | ||
ENST00000359321.2:c.121+112T>C MANE Select | ENSP00000352271.1:n.121+112T>C | |
ENST00000359321.1:c.121+112T>C | ENSP00000352271.1:n.121+112T>C | |
ENST00000495707.1:n.143+112T>C | ||
NM_005431.1:c.121+112T>C | NP_005422.1:n.121+112T>C | |
NM_005431.2:c.121+112T>C MANE Select | NP_005422.1:n.121+112T>C |