HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339659A>C , CM000669.2:g.17339659A>C | GRCh38 |
NC_000007.13:g.17379283A>C , CM000669.1:g.17379283A>C | GRCh37 |
NC_000007.12:g.17345808A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1834A>C MANE Select | ENSP00000242057.4:p.Met612Leu | |
ENST00000637807.1:c.1804A>C | ENSP00000490530.1:p.Met602Leu | |
ENST00000642825.1:c.1789A>C | ENSP00000495987.1:p.Met597Leu | |
ENST00000242057.8:c.1834A>C | ENSP00000242057.4:p.Met612Leu | |
ENST00000463496.1:c.1834A>C | ENSP00000436466.1:p.Met612Leu | |
NM_001621.4:c.1834A>C | NP_001612.1:p.Met612Leu | |
NM_001621.5:c.1834A>C MANE Select | NP_001612.1:p.Met612Leu |