Linked Data
ClinVar Variation Id:
1905129
ClinVar RCV Id:
RCV002580638
dbSNP Id:
rs201253326
gnomAD v2:
2-55906944-G-A
gnomAD v4:
2-55679809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55679809G>A , CM000664.2:g.55679809G>A | GRCh38 |
| NC_000002.11:g.55906944G>A , CM000664.1:g.55906944G>A | GRCh37 |
| NC_000002.10:g.55760448G>A | NCBI36 |
| NG_033012.1:g.19102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.566-14C>T MANE Select | ENSP00000400646.2:n.566-14C>T | |
| ENST00000260604.8:c.*121-14C>T | ENSP00000260604.4:n.*121-14C>T | |
| ENST00000415374.5:c.566-14C>T | ENSP00000393953.1:n.566-14C>T | |
| ENST00000429805.1:c.*214-14C>T | ENSP00000411994.1:n.*214-14C>T | |
| ENST00000447944.6:c.566-14C>T | ENSP00000400646.2:n.566-14C>T | |
| NM_033109.4:c.566-14C>T | NP_149100.2:n.566-14C>T | |
| XM_005264629.1:c.326-14C>T | XP_005264686.1:n.326-14C>T | |
| XM_011533142.1:c.566-14C>T | XP_011531444.1:n.566-14C>T | |
| XM_005264629.2:c.326-14C>T | XP_005264686.1:n.326-14C>T | |
| XM_017005172.1:c.326-14C>T | XP_016860661.1:n.326-14C>T | |
| XR_001739010.1:n.596-14C>T | ||
| NM_033109.5:c.566-14C>T MANE Select | NP_149100.2:n.566-14C>T |