HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648935C>A , CM000669.2:g.152648935C>A | GRCh38 |
NC_000007.13:g.152346020C>A , CM000669.1:g.152346020C>A | GRCh37 |
NC_000007.12:g.151976953C>A | NCBI36 |
NG_027988.1:g.32231G>T | |
NG_027988.2:g.32231G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.382G>T | ENSP00000513758.1:p.Val128Leu | |
ENST00000359321.2:c.550G>T MANE Select | ENSP00000352271.1:p.Val184Leu | |
ENST00000359321.1:c.550G>T | ENSP00000352271.1:p.Val184Leu | |
ENST00000495707.1:n.572G>T | ||
NM_005431.1:c.550G>T | NP_005422.1:p.Val184Leu | |
NM_005431.2:c.550G>T MANE Select | NP_005422.1:p.Val184Leu |