HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339492T>A , CM000669.2:g.17339492T>A | GRCh38 |
NC_000007.13:g.17379116T>A , CM000669.1:g.17379116T>A | GRCh37 |
NC_000007.12:g.17345641T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242057.9:c.1667T>A MANE Select | ENSP00000242057.4:p.Met556Lys | |
ENST00000637807.1:c.1637T>A | ENSP00000490530.1:p.Met546Lys | |
ENST00000642825.1:c.1622T>A | ENSP00000495987.1:p.Met541Lys | |
ENST00000242057.8:c.1667T>A | ENSP00000242057.4:p.Met556Lys | |
ENST00000463496.1:c.1667T>A | ENSP00000436466.1:p.Met556Lys | |
ENST00000492120.1:n.649T>A | ||
NM_001621.4:c.1667T>A | NP_001612.1:p.Met556Lys | |
NM_001621.5:c.1667T>A MANE Select | NP_001612.1:p.Met556Lys |