Linked Data
ClinVar Variation Id:
1274886
ClinVar RCV Id:
RCV001679125
dbSNP Id:
rs17849071
gnomAD v2:
3-178936227-T-G
gnomAD v3:
3-179218439-T-G
gnomAD v4:
3-179218439-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218439T>G , CM000665.2:g.179218439T>G | GRCh38 |
| NC_000003.11:g.178936227T>G , CM000665.1:g.178936227T>G | GRCh37 |
| NC_000003.10:g.180418921T>G | NCBI36 |
| NG_012113.2:g.74917T>G , LRG_310:g.74917T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.1664+105T>G MANE Select | ENSP00000263967.3:n.1664+105T>G | |
| ENST00000462255.2:n.126+105T>G | ||
| ENST00000643187.1:c.1664+105T>G | ENSP00000493507.1:n.1664+105T>G | |
| ENST00000674534.1:n.1523T>G | ||
| ENST00000674622.1:c.167+105T>G | ENSP00000502417.1:n.167+105T>G | |
| ENST00000675467.1:n.4471+105T>G | ||
| ENST00000675786.1:c.*231+105T>G | ENSP00000502323.1:n.*231+105T>G | |
| ENST00000263967.3:c.1664+105T>G | ENSP00000263967.3:n.1664+105T>G | |
| NM_006218.2:c.1664+105T>G , LRG_310t1:c.1664+105T>G | NP_006209.2:n.1664+105T>G | |
| XM_006713658.2:c.1664+105T>G | XP_006713721.1:n.1664+105T>G | |
| XM_011512894.1:c.1664+105T>G | XP_011511196.1:n.1664+105T>G | |
| NM_006218.3:c.1664+105T>G | NP_006209.2:n.1664+105T>G | |
| XM_006713658.4:c.1664+105T>G | XP_006713721.1:n.1664+105T>G | |
| XM_011512894.2:c.1664+105T>G | XP_011511196.1:n.1664+105T>G | |
| NM_006218.4:c.1664+105T>G MANE Select | NP_006209.2:n.1664+105T>G |