HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23048089A>G , CM000682.2:g.23048089A>G | GRCh38 |
NC_000020.10:g.23028726A>G , CM000682.1:g.23028726A>G | GRCh37 |
NC_000020.9:g.22976726A>G | NCBI36 |
NG_012027.1:g.6576T>C , LRG_168:g.6576T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377103.3:c.1416T>C MANE Select | ENSP00000366307.2:p.Leu472= | |
ENST00000377103.2:c.1416T>C | ENSP00000366307.2:p.Leu472= | |
NM_000361.2:c.1416T>C , LRG_168t1:c.1416T>C | NP_000352.1:p.Leu472= | |
NM_000361.3:c.1416T>C MANE Select | NP_000352.1:p.Leu472= |