HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152676099A>T , CM000669.2:g.152676099A>T | GRCh38 |
NC_000007.13:g.152373184A>T , CM000669.1:g.152373184A>T | GRCh37 |
NC_000007.12:g.152004117A>T | NCBI36 |
NG_027988.1:g.5067T>A | |
NG_027988.2:g.5067T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-106T>A | ENSP00000513758.1:n.-106T>A | |
ENST00000698507.1:n.49T>A | ||
ENST00000359321.2:c.-20T>A MANE Select | ENSP00000352271.1:n.-20T>A | |
ENST00000359321.1:c.-20T>A | ENSP00000352271.1:n.-20T>A | |
NM_005431.1:c.-20T>A | NP_005422.1:n.-20T>A | |
NM_005431.2:c.-20T>A MANE Select | NP_005422.1:n.-20T>A |