HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115738330A>C , CM000663.2:g.115738330A>C | GRCh38 |
NC_000001.10:g.116280951A>C , CM000663.1:g.116280951A>C | GRCh37 |
NC_000001.9:g.116082474A>C | NCBI36 |
NG_008802.1:g.35476T>G , LRG_404:g.35476T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000488931.2:c.150T>G | ENSP00000518226.1:p.Ile50Met | |
ENST00000261448.6:c.426T>G MANE Select | ENSP00000261448.5:p.Ile142Met | |
ENST00000261448.5:c.426T>G | ENSP00000261448.5:p.Ile142Met | |
NM_001232.3:c.426T>G , LRG_404t1:c.426T>G | NP_001223.2:p.Ile142Met | |
NM_001232.4:c.426T>G MANE Select | NP_001223.2:p.Ile142Met |