Linked Data
ClinVar Variation Id:
434144
dbSNP Id:
rs41280332
ExAC:
1:110171120 A / G
gnomAD v2:
1-110171120-A-G
gnomAD v3:
1-109628498-A-G
gnomAD v4:
1-109628498-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109628498A>G , CM000663.2:g.109628498A>G | GRCh38 |
| NC_000001.10:g.110171120A>G , CM000663.1:g.110171120A>G | GRCh37 |
| NC_000001.9:g.109972643A>G | NCBI36 |
| NG_034075.1:g.13686A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.1407+3A>G | ENSP00000256578.4:n.1407+3A>G | |
| ENST00000358729.9:c.1407+3A>G | ENSP00000351573.5:n.1407+3A>G | |
| ENST00000369840.7:c.1407+3A>G | ENSP00000358855.3:n.1407+3A>G | |
| ENST00000474459.6:n.2026+3A>G | ||
| ENST00000476688.3:c.1089+3A>G | ENSP00000437025.2:n.1089+3A>G | |
| ENST00000486282.7:n.2219A>G | ||
| ENST00000524975.2:n.1744A>G | ||
| ENST00000525415.2:n.1923+3A>G | ||
| ENST00000526301.6:n.1470+3A>G | ||
| ENST00000527846.7:n.1262+3A>G | ||
| ENST00000528667.7:c.1407+3A>G MANE Select | ENSP00000436541.2:n.1407+3A>G | |
| ENST00000531203.6:c.1215+3A>G | ENSP00000431975.2:n.1215+3A>G | |
| ENST00000531734.6:c.1326+3A>G | ENSP00000433739.2:n.1326+3A>G | |
| ENST00000652975.2:c.*1159+3A>G | ENSP00000499620.2:n.*1159+3A>G | |
| ENST00000654851.1:n.1249+3A>G | ||
| ENST00000655992.1:c.1215+3A>G | ENSP00000499740.1:n.1215+3A>G | |
| ENST00000659122.2:c.1407+3A>G | ENSP00000499621.2:n.1407+3A>G | |
| ENST00000663749.1:c.*1154+3A>G | ENSP00000499739.1:n.*1154+3A>G | |
| ENST00000667949.2:c.807+3A>G | ENSP00000499465.2:n.807+3A>G | |
| ENST00000668421.1:c.*1348+3A>G | ENSP00000499362.1:n.*1348+3A>G | |
| ENST00000679379.1:c.*1159+3A>G | ENSP00000505528.1:n.*1159+3A>G | |
| ENST00000679593.1:c.1407+3A>G | ENSP00000505999.1:n.1407+3A>G | |
| ENST00000679880.1:n.1927+3A>G | ||
| ENST00000679892.1:c.*1175+3A>G | ENSP00000504882.1:n.*1175+3A>G | |
| ENST00000679981.1:c.*1421+3A>G | ENSP00000506422.1:n.*1421+3A>G | |
| ENST00000680132.1:c.*1357+3A>G | ENSP00000505950.1:n.*1357+3A>G | |
| ENST00000680148.1:c.*1159+3A>G | ENSP00000505994.1:n.*1159+3A>G | |
| ENST00000680170.1:n.2128A>G | ||
| ENST00000680192.1:n.2221A>G | ||
| ENST00000680519.1:n.1643+3A>G | ||
| ENST00000680531.1:c.*1154+3A>G | ENSP00000506332.1:n.*1154+3A>G | |
| ENST00000680820.1:c.*1159+3A>G | ENSP00000505735.1:n.*1159+3A>G | |
| ENST00000680832.1:c.*1507+3A>G | ENSP00000505774.1:n.*1507+3A>G | |
| ENST00000680929.1:c.*1096+3A>G | ENSP00000504916.1:n.*1096+3A>G | |
| ENST00000681108.1:c.*1245+3A>G | ENSP00000506701.1:n.*1245+3A>G | |
| ENST00000681121.1:c.*517+3A>G | ENSP00000506466.1:n.*517+3A>G | |
| ENST00000681132.1:c.*1173+3A>G | ENSP00000506195.1:n.*1173+3A>G | |
| ENST00000681181.1:c.*1248A>G | ENSP00000506038.1:n.*1248A>G | |
| ENST00000681218.1:c.*1536A>G | ENSP00000505976.1:n.*1536A>G | |
| ENST00000681246.1:c.*1063+3A>G | ENSP00000505534.1:n.*1063+3A>G | |
| ENST00000681496.1:c.*1536A>G | ENSP00000505948.1:n.*1536A>G | |
| ENST00000681834.1:n.1746+3A>G | ||
| ENST00000681862.1:c.*1533+3A>G | ENSP00000505537.1:n.*1533+3A>G | |
| ENST00000256578.7:c.1569+3A>G | ENSP00000256578.3:n.1569+3A>G | |
| ENST00000342115.8:c.1326+3A>G | ENSP00000345498.4:n.1326+3A>G | |
| ENST00000358729.8:c.1344+3A>G | ENSP00000351573.4:n.1344+3A>G | |
| ENST00000369840.6:c.1480+3A>G | ||
| ENST00000393688.7:c.1212+3A>G | ENSP00000377292.3:n.1212+3A>G | |
| ENST00000526301.5:n.1608+3A>G | ||
| ENST00000528454.5:c.1215+3A>G | ENSP00000437164.1:n.1215+3A>G | |
| ENST00000528667.5:c.1569+3A>G | ENSP00000436541.1:n.1569+3A>G | |
| ENST00000529299.2:n.546A>G | ||
| ENST00000532851.1:n.117+3A>G | ||
| NM_001257360.1:c.1569+3A>G | NP_001244289.1:n.1569+3A>G | |
| NM_001257361.1:c.1215+3A>G | NP_001244290.1:n.1215+3A>G | |
| NM_001308170.1:c.1344+3A>G | NP_001295099.1:n.1344+3A>G | |
| NM_004037.7:c.1569+3A>G | NP_004028.3:n.1569+3A>G | |
| NM_139156.3:c.1326+3A>G | NP_631895.1:n.1326+3A>G | |
| NM_203404.1:c.1212+3A>G | NP_981949.1:n.1212+3A>G | |
| XM_011541247.1:c.1782+3A>G | XP_011539549.1:n.1782+3A>G | |
| XM_011541248.1:c.1782+3A>G | XP_011539550.1:n.1782+3A>G | |
| XR_946607.1:n.1805+3A>G | ||
| XM_024446431.1:c.1344+3A>G | XP_024302199.1:n.1344+3A>G | |
| XM_024446432.1:c.1430+3A>G | XP_024302200.1:n.1430+3A>G | |
| XR_002956282.1:n.1980+3A>G | ||
| NM_001257360.2:c.1569+3A>G | NP_001244289.1:n.1569+3A>G | |
| NM_001368809.2:c.1407+3A>G MANE Select | NP_001355738.1:n.1407+3A>G | |
| NM_004037.9:c.1407+3A>G | NP_004028.4:n.1407+3A>G | |
| NM_001257361.2:c.1215+3A>G | NP_001244290.1:n.1215+3A>G | |
| NM_139156.4:c.1326+3A>G | NP_631895.1:n.1326+3A>G |