Linked Data
dbSNP Id:
rs1466259258
gnomAD v2:
10-16957859-C-T
gnomAD v3:
10-16915860-C-T
gnomAD v4:
10-16915860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16915860C>T , CM000672.2:g.16915860C>T | GRCh38 |
| NC_000010.10:g.16957859C>T , CM000672.1:g.16957859C>T | GRCh37 |
| NC_000010.9:g.16997865C>T | NCBI36 |
| NG_008967.1:g.218958G>A , LRG_540:g.218958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.7171G>A MANE Select | ENSP00000367064.4:p.Glu2391Lys | |
| ENST00000377833.8:c.7171G>A | ENSP00000367064.4:p.Glu2391Lys | |
| NM_001081.3:c.7171G>A , LRG_540t1:c.7171G>A | NP_001072.2:p.Glu2391Lys | |
| XM_011519708.1:c.7171G>A | XP_011518010.1:p.Glu2391Lys | |
| XM_011519709.1:c.3157G>A | XP_011518011.1:p.Glu1053Lys | |
| XM_011519710.1:c.3133G>A | XP_011518012.1:p.Glu1045Lys | |
| XM_011519711.1:c.3013G>A | XP_011518013.1:p.Glu1005Lys | |
| XM_011519708.2:c.7171G>A | XP_011518010.1:p.Glu2391Lys | |
| XM_011519709.2:c.3157G>A | XP_011518011.1:p.Glu1053Lys | |
| XM_011519710.2:c.3133G>A | XP_011518012.1:p.Glu1045Lys | |
| XM_011519711.3:c.3013G>A | XP_011518013.1:p.Glu1005Lys | |
| NM_001081.4:c.7171G>A MANE Select | NP_001072.2:p.Glu2391Lys |