Linked Data
ClinVar Variation Id:
2954366
ClinVar RCV Id:
RCV003813589
dbSNP Id:
rs749769107
ExAC:
3:33063046 T / C
gnomAD v2:
3-33063046-T-C
gnomAD v4:
3-33021554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33021554T>C , CM000665.2:g.33021554T>C | GRCh38 |
| NC_000003.11:g.33063046T>C , CM000665.1:g.33063046T>C | GRCh37 |
| NC_000003.10:g.33038050T>C | NCBI36 |
| NG_009005.1:g.80649A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1233+12A>G MANE Select | ENSP00000306920.4:n.1233+12A>G | |
| ENST00000307363.9:c.1233+12A>G | ENSP00000306920.4:n.1233+12A>G | |
| ENST00000307377.12:c.840+12A>G | ENSP00000305920.8:n.840+12A>G | |
| ENST00000399402.7:c.1143+12A>G | ENSP00000382333.2:n.1143+12A>G | |
| ENST00000461475.5:n.332+12A>G | ||
| ENST00000467571.5:n.270+12A>G | ||
| ENST00000473477.1:n.277A>G | ||
| ENST00000497796.5:n.485+12A>G | ||
| NM_000404.2:c.1233+12A>G | NP_000395.2:n.1233+12A>G | |
| NM_000404.3:c.1233+12A>G | NP_000395.2:n.1233+12A>G | |
| NM_001079811.1:c.1143+12A>G | NP_001073279.1:n.1143+12A>G | |
| NM_001079811.2:c.1143+12A>G | NP_001073279.1:n.1143+12A>G | |
| NM_001135602.1:c.840+12A>G | NP_001129074.1:n.840+12A>G | |
| NM_001135602.2:c.840+12A>G | NP_001129074.1:n.840+12A>G | |
| NM_001317040.1:c.1377+12A>G | NP_001303969.1:n.1377+12A>G | |
| XR_001740634.1:n.1543-634T>C | ||
| NM_000404.4:c.1233+12A>G MANE Select | NP_000395.3:n.1233+12A>G | |
| NM_001079811.3:c.1143+12A>G | NP_001073279.2:n.1143+12A>G | |
| NM_001135602.3:c.840+12A>G | NP_001129074.2:n.840+12A>G | |
| NM_001317040.2:c.1377+12A>G | NP_001303969.2:n.1377+12A>G | |
| NM_001393580.1:c.1233+12A>G | NP_001380509.1:n.1233+12A>G |