HGVS | Genome Assembly |
---|---|
NC_000012.12:g.107001366A>G , CM000674.2:g.107001366A>G | GRCh38 |
NC_000012.11:g.107395144A>G , CM000674.1:g.107395144A>G | GRCh37 |
NC_000012.10:g.105919274A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000008527.10:c.598T>C MANE Select | ENSP00000008527.5:p.Phe200Leu | |
ENST00000008527.9:c.598T>C | ENSP00000008527.5:p.Phe200Leu | |
ENST00000546722.1:n.91T>C | ||
ENST00000552790.5:n.1157T>C | ||
NM_004075.4:c.598T>C | NP_004066.1:p.Phe200Leu | |
XM_011537939.1:c.514T>C | XP_011536241.1:p.Phe172Leu | |
XM_017018832.2:c.514T>C | XP_016874321.1:p.Phe172Leu | |
XM_024448844.1:c.598T>C | XP_024304612.1:p.Phe200Leu | |
XM_024448845.1:c.514T>C | XP_024304613.1:p.Phe172Leu | |
NM_004075.5:c.598T>C MANE Select | NP_004066.1:p.Phe200Leu |