HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420533C>T , CM000666.2:g.99420533C>T | GRCh38 |
NC_000004.11:g.100341690C>T , CM000666.1:g.100341690C>T | GRCh37 |
NC_000004.10:g.100560713C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.825G>A MANE Select | ENSP00000414254.2:p.Met275Ile | |
ENST00000209665.8:c.861G>A | ENSP00000209665.4:p.Met287Ile | |
ENST00000437033.6:c.825G>A | ENSP00000414254.2:p.Met275Ile | |
ENST00000476959.5:c.885G>A | ENSP00000420269.1:p.Met295Ile | |
ENST00000482593.5:c.654G>A | ENSP00000420613.1:p.Met218Ile | |
NM_000673.4:c.861G>A | NP_000664.2:p.Met287Ile | |
NM_001166504.1:c.885G>A | NP_001159976.1:p.Met295Ile | |
NM_000673.7:c.825G>A MANE Select | NP_000664.3:p.Met275Ile | |
NM_001166504.2:c.885G>A | NP_001159976.1:p.Met295Ile |