HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21864566T>G , CM000669.2:g.21864566T>G | GRCh38 |
NC_000007.13:g.21904184T>G , CM000669.1:g.21904184T>G | GRCh37 |
NC_000007.12:g.21870709T>G | NCBI36 |
NG_012886.2:g.326352T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409508.8:c.11405T>G MANE Select | ENSP00000475939.1:p.Leu3802Arg | |
ENST00000328843.10:c.11426T>G | ENSP00000330671.7:p.Leu3809Arg | |
ENST00000409508.7:c.11405T>G | ENSP00000475939.1:p.Leu3802Arg | |
ENST00000620169.4:c.11426T>G | ENSP00000481693.1:p.Leu3809Arg | |
NM_001277115.1:c.11405T>G | NP_001264044.1:p.Leu3802Arg | |
NM_001277115.2:c.11405T>G MANE Select | NP_001264044.1:p.Leu3802Arg |