HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339612C>T , CM000669.2:g.17339612C>T | GRCh38 |
NC_000007.13:g.17379236C>T , CM000669.1:g.17379236C>T | GRCh37 |
NC_000007.12:g.17345761C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1787C>T MANE Select | ENSP00000242057.4:p.Pro596Leu | |
ENST00000637807.1:c.1757C>T | ENSP00000490530.1:p.Pro586Leu | |
ENST00000642825.1:c.1742C>T | ENSP00000495987.1:p.Pro581Leu | |
ENST00000242057.8:c.1787C>T | ENSP00000242057.4:p.Pro596Leu | |
ENST00000463496.1:c.1787C>T | ENSP00000436466.1:p.Pro596Leu | |
NM_001621.4:c.1787C>T | NP_001612.1:p.Pro596Leu | |
NM_001621.5:c.1787C>T MANE Select | NP_001612.1:p.Pro596Leu |