HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339764G>T , CM000669.2:g.17339764G>T | GRCh38 |
NC_000007.13:g.17379388G>T , CM000669.1:g.17379388G>T | GRCh37 |
NC_000007.12:g.17345913G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1939G>T MANE Select | ENSP00000242057.4:p.Val647Phe | |
ENST00000637807.1:c.1909G>T | ENSP00000490530.1:p.Val637Phe | |
ENST00000642825.1:c.1894G>T | ENSP00000495987.1:p.Val632Phe | |
ENST00000242057.8:c.1939G>T | ENSP00000242057.4:p.Val647Phe | |
ENST00000463496.1:c.1939G>T | ENSP00000436466.1:p.Val647Phe | |
NM_001621.4:c.1939G>T | NP_001612.1:p.Val647Phe | |
NM_001621.5:c.1939G>T MANE Select | NP_001612.1:p.Val647Phe |