Linked Data
ClinVar Variation Id:
901508
dbSNP Id:
rs547498421
gnomAD v2:
3-49162900-C-T
gnomAD v4:
3-49125467-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125467C>T , CM000665.2:g.49125467C>T | GRCh38 |
| NC_000003.11:g.49162900C>T , CM000665.1:g.49162900C>T | GRCh37 |
| NC_000003.10:g.49137904C>T | NCBI36 |
| NG_008094.1:g.12700G>A | |
| NG_054716.1:g.472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2506G>A MANE Select | ENSP00000307156.4:p.Glu836Lys | |
| ENST00000305544.8:c.2506G>A | ENSP00000307156.4:p.Glu836Lys | |
| ENST00000418109.5:c.2506G>A | ENSP00000388325.1:p.Glu836Lys | |
| ENST00000464891.5:n.255G>A | ||
| ENST00000477701.1:n.379G>A | ||
| ENST00000483057.1:n.106G>A | ||
| ENST00000486298.5:n.426-298G>A | ||
| NM_002292.3:c.2506G>A | NP_002283.3:p.Glu836Lys | |
| XM_005265127.3:c.2506G>A | XP_005265184.1:p.Glu836Lys | |
| XM_005265127.4:c.2506G>A | XP_005265184.1:p.Glu836Lys | |
| NM_002292.4:c.2506G>A MANE Select | NP_002283.3:p.Glu836Lys |