Linked Data
ClinVar Variation Id:
1530365
ClinVar RCV Id:
RCV002089662
dbSNP Id:
rs767016709
ExAC:
3:58491022 A / G
gnomAD v2:
3-58491022-A-G
gnomAD v3:
3-58505295-A-G
gnomAD v4:
3-58505295-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58505295A>G , CM000665.2:g.58505295A>G | GRCh38 |
| NC_000003.11:g.58491022A>G , CM000665.1:g.58491022A>G | GRCh37 |
| NC_000003.10:g.58466062A>G | NCBI36 |
| NG_052668.1:g.36908T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302819.10:c.1984-9T>C MANE Select | ENSP00000307697.5:n.1984-9T>C | |
| ENST00000302819.9:c.1984-9T>C | ENSP00000307697.5:n.1984-9T>C | |
| ENST00000459701.6:c.1942-9T>C | ENSP00000418562.2:n.1942-9T>C | |
| ENST00000460921.1:c.392-9T>C | ENSP00000417877.1:n.392-9T>C | |
| ENST00000467738.1:n.922-9T>C | ||
| ENST00000481527.5:n.492-9T>C | ||
| NM_003500.3:c.1984-9T>C | NP_003491.1:n.1984-9T>C | |
| XM_005265505.1:c.1984-9T>C | XP_005265562.1:n.1984-9T>C | |
| XM_005265506.2:c.1774-9T>C | XP_005265563.1:n.1774-9T>C | |
| XM_006713340.2:c.1690-9T>C | XP_006713403.1:n.1690-9T>C | |
| XM_011534147.1:c.2149-9T>C | XP_011532449.1:n.2149-9T>C | |
| XM_011534148.1:c.1690-9T>C | XP_011532450.1:n.1690-9T>C | |
| XM_006713340.3:c.1690-9T>C | XP_006713403.1:n.1690-9T>C | |
| XM_017007302.2:c.1774-9T>C | XP_016862791.1:n.1774-9T>C | |
| XM_024453786.1:c.1774-9T>C | XP_024309554.1:n.1774-9T>C | |
| NM_003500.4:c.1984-9T>C MANE Select | NP_003491.1:n.1984-9T>C |