Linked Data
ClinVar Variation Id:
235369
dbSNP Id:
rs145268448
ExAC:
1:110170697 C / A
gnomAD v2:
1-110170697-C-A
gnomAD v3:
1-109628075-C-A
gnomAD v4:
1-109628075-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628075C>A , CM000663.2:g.109628075C>A | GRCh38 |
| NC_000001.10:g.110170697C>A , CM000663.1:g.110170697C>A | GRCh37 |
| NC_000001.9:g.109972220C>A | NCBI36 |
| NG_034075.1:g.13263C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1081-8C>A | ENSP00000256578.4:n.1081-8C>A | |
| ENST00000358729.9:c.1081-8C>A | ENSP00000351573.5:n.1081-8C>A | |
| ENST00000369840.7:c.1081-8C>A | ENSP00000358855.3:n.1081-8C>A | |
| ENST00000474459.6:n.1700-8C>A | ||
| ENST00000476688.3:c.763-8C>A | ENSP00000437025.2:n.763-8C>A | |
| ENST00000486282.7:n.1804-8C>A | ||
| ENST00000524975.2:n.1415-8C>A | ||
| ENST00000525415.2:n.1597-8C>A | ||
| ENST00000526301.6:n.1144-8C>A | ||
| ENST00000527846.7:n.936-8C>A | ||
| ENST00000528667.7:c.1081-8C>A MANE Select | ENSP00000436541.2:n.1081-8C>A | |
| ENST00000531203.6:c.889-8C>A | ENSP00000431975.2:n.889-8C>A | |
| ENST00000531734.6:c.1000-8C>A | ENSP00000433739.2:n.1000-8C>A | |
| ENST00000652975.2:c.*833-8C>A | ENSP00000499620.2:n.*833-8C>A | |
| ENST00000654851.1:n.923-8C>A | ||
| ENST00000655992.1:c.889-8C>A | ENSP00000499740.1:n.889-8C>A | |
| ENST00000659122.2:c.1081-8C>A | ENSP00000499621.2:n.1081-8C>A | |
| ENST00000663749.1:c.*833-8C>A | ENSP00000499739.1:n.*833-8C>A | |
| ENST00000667949.2:c.481-8C>A | ENSP00000499465.2:n.481-8C>A | |
| ENST00000668421.1:c.*1022-8C>A | ENSP00000499362.1:n.*1022-8C>A | |
| ENST00000679379.1:c.*833-8C>A | ENSP00000505528.1:n.*833-8C>A | |
| ENST00000679593.1:c.1081-8C>A | ENSP00000505999.1:n.1081-8C>A | |
| ENST00000679880.1:n.1601-8C>A | ||
| ENST00000679892.1:c.*849-8C>A | ENSP00000504882.1:n.*849-8C>A | |
| ENST00000679981.1:c.*1095-8C>A | ENSP00000506422.1:n.*1095-8C>A | |
| ENST00000680132.1:c.*945-8C>A | ENSP00000505950.1:n.*945-8C>A | |
| ENST00000680148.1:c.*833-8C>A | ENSP00000505994.1:n.*833-8C>A | |
| ENST00000680170.1:n.1713-8C>A | ||
| ENST00000680192.1:n.1806-8C>A | ||
| ENST00000680519.1:n.1317-8C>A | ||
| ENST00000680531.1:c.*833-8C>A | ENSP00000506332.1:n.*833-8C>A | |
| ENST00000680820.1:c.*833-8C>A | ENSP00000505735.1:n.*833-8C>A | |
| ENST00000680832.1:c.*1095-8C>A | ENSP00000505774.1:n.*1095-8C>A | |
| ENST00000680929.1:c.*833-8C>A | ENSP00000504916.1:n.*833-8C>A | |
| ENST00000681108.1:c.*833-8C>A | ENSP00000506701.1:n.*833-8C>A | |
| ENST00000681121.1:c.*191-8C>A | ENSP00000506466.1:n.*191-8C>A | |
| ENST00000681132.1:c.*847-8C>A | ENSP00000506195.1:n.*847-8C>A | |
| ENST00000681181.1:c.*833-8C>A | ENSP00000506038.1:n.*833-8C>A | |
| ENST00000681218.1:c.*1207-8C>A | ENSP00000505976.1:n.*1207-8C>A | |
| ENST00000681246.1:c.*737-8C>A | ENSP00000505534.1:n.*737-8C>A | |
| ENST00000681496.1:c.*1207-8C>A | ENSP00000505948.1:n.*1207-8C>A | |
| ENST00000681834.1:n.1420-8C>A | ||
| ENST00000681862.1:c.*1207-8C>A | ENSP00000505537.1:n.*1207-8C>A | |
| ENST00000256578.7:c.1243-8C>A | ENSP00000256578.3:n.1243-8C>A | |
| ENST00000342115.8:c.1000-8C>A | ENSP00000345498.4:n.1000-8C>A | |
| ENST00000358729.8:c.1018-8C>A | ENSP00000351573.4:n.1018-8C>A | |
| ENST00000369840.6:c.1154-8C>A | ||
| ENST00000393688.7:c.886-8C>A | ENSP00000377292.3:n.886-8C>A | |
| ENST00000526301.5:n.1282-8C>A | ||
| ENST00000528454.5:c.889-8C>A | ENSP00000437164.1:n.889-8C>A | |
| ENST00000528667.5:c.1243-8C>A | ENSP00000436541.1:n.1243-8C>A | |
| ENST00000529299.2:n.131-8C>A | ||
| NM_001257360.1:c.1243-8C>A | NP_001244289.1:n.1243-8C>A | |
| NM_001257361.1:c.889-8C>A | NP_001244290.1:n.889-8C>A | |
| NM_001308170.1:c.1018-8C>A | NP_001295099.1:n.1018-8C>A | |
| NM_004037.7:c.1243-8C>A | NP_004028.3:n.1243-8C>A | |
| NM_139156.3:c.1000-8C>A | NP_631895.1:n.1000-8C>A | |
| NM_203404.1:c.886-8C>A | NP_981949.1:n.886-8C>A | |
| XM_011541247.1:c.1456-8C>A | XP_011539549.1:n.1456-8C>A | |
| XM_011541248.1:c.1456-8C>A | XP_011539550.1:n.1456-8C>A | |
| XR_946607.1:n.1479-8C>A | ||
| XM_024446431.1:c.1018-8C>A | XP_024302199.1:n.1018-8C>A | |
| XM_024446432.1:c.1018-8C>A | XP_024302200.1:n.1018-8C>A | |
| XR_002956282.1:n.1654-8C>A | ||
| NM_001257360.2:c.1243-8C>A | NP_001244289.1:n.1243-8C>A | |
| NM_001368809.2:c.1081-8C>A MANE Select | NP_001355738.1:n.1081-8C>A | |
| NM_004037.9:c.1081-8C>A | NP_004028.4:n.1081-8C>A | |
| NM_001257361.2:c.889-8C>A | NP_001244290.1:n.889-8C>A | |
| NM_139156.4:c.1000-8C>A | NP_631895.1:n.1000-8C>A |