HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21619166G>C , CM000669.2:g.21619166G>C | GRCh38 |
NC_000007.13:g.21658784G>C , CM000669.1:g.21658784G>C | GRCh37 |
NC_000007.12:g.21625309G>C | NCBI36 |
NG_012886.2:g.80952G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4321G>C MANE Select | ENSP00000475939.1:p.Glu1441Gln | |
ENST00000328843.10:c.4336G>C | ENSP00000330671.7:p.Glu1446Gln | |
ENST00000409508.7:c.4321G>C | ENSP00000475939.1:p.Glu1441Gln | |
ENST00000465593.1:n.347G>C | ||
ENST00000620169.4:c.4336G>C | ENSP00000481693.1:p.Glu1446Gln | |
NM_001277115.1:c.4321G>C | NP_001264044.1:p.Glu1441Gln | |
NM_001277115.2:c.4321G>C MANE Select | NP_001264044.1:p.Glu1441Gln |