Linked Data
ClinVar Variation Id:
223910
ClinVar RCV Id:
RCV000209112
dbSNP Id:
rs869312615
gnomAD v3:
3-179148799-G-A
gnomAD v4:
3-179148799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179148799G>A , CM000665.2:g.179148799G>A | GRCh38 |
| NC_000003.11:g.178866587G>A , CM000665.1:g.178866587G>A | GRCh37 |
| NC_000003.10:g.180349281G>A | NCBI36 |
| NG_012113.2:g.5277G>A , LRG_310:g.5277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.-77+196G>A MANE Select | ENSP00000263967.3:n.-77+196G>A | |
| ENST00000643187.1:c.-77+196G>A | ENSP00000493507.1:n.-77+196G>A | |
| ENST00000263967.3:c.-77+196G>A | ENSP00000263967.3:n.-77+196G>A | |
| ENST00000477735.1:c.-77+580G>A | ENSP00000418145.1:n.-77+580G>A | |
| NM_006218.2:c.-77+196G>A , LRG_310t1:c.-77+196G>A | NP_006209.2:n.-77+196G>A | |
| XM_006713658.2:c.-77+580G>A | XP_006713721.1:n.-77+580G>A | |
| NM_006218.3:c.-77+196G>A | NP_006209.2:n.-77+196G>A | |
| XM_006713658.4:c.-77+580G>A | XP_006713721.1:n.-77+580G>A | |
| NM_006218.4:c.-77+196G>A MANE Select | NP_006209.2:n.-77+196G>A |