HGVS | Genome Assembly |
---|---|
NC_000007.14:g.5603298G>C , CM000669.2:g.5603298G>C | GRCh38 |
NC_000007.13:g.5642929G>C , CM000669.1:g.5642929G>C | GRCh37 |
NC_000007.12:g.5609455G>C | NCBI36 |
NG_030004.1:g.15494G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382361.8:c.874G>C MANE Select | ENSP00000371798.3:p.Glu292Gln | |
ENST00000382361.7:c.874G>C | ENSP00000371798.3:p.Glu292Gln | |
ENST00000405801.2:c.40G>C | ENSP00000383982.2:p.Glu14Gln | |
ENST00000444748.5:c.40G>C | ENSP00000404506.1:p.Glu14Gln | |
ENST00000447103.5:c.40G>C | ENSP00000409967.1:p.Glu14Gln | |
ENST00000473330.1:n.427G>C | ||
NM_003088.3:c.874G>C | NP_003079.1:p.Glu292Gln | |
NM_003088.4:c.874G>C MANE Select | NP_003079.1:p.Glu292Gln |