HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152648934A>G , CM000669.2:g.152648934A>G | GRCh38 |
NC_000007.13:g.152346019A>G , CM000669.1:g.152346019A>G | GRCh37 |
NC_000007.12:g.151976952A>G | NCBI36 |
NG_027988.1:g.32232T>C | |
NG_027988.2:g.32232T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.383T>C | ENSP00000513758.1:p.Val128Ala | |
ENST00000359321.2:c.551T>C MANE Select | ENSP00000352271.1:p.Val184Ala | |
ENST00000359321.1:c.551T>C | ENSP00000352271.1:p.Val184Ala | |
ENST00000495707.1:n.573T>C | ||
NM_005431.1:c.551T>C | NP_005422.1:p.Val184Ala | |
NM_005431.2:c.551T>C MANE Select | NP_005422.1:p.Val184Ala |