Linked Data
ClinVar Variation Id:
292766
dbSNP Id:
rs190881240
ExAC:
1:154562227 A / G
gnomAD v2:
1-154562227-A-G
gnomAD v3:
1-154589751-A-G
gnomAD v4:
1-154589751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154589751A>G , CM000663.2:g.154589751A>G | GRCh38 |
| NC_000001.10:g.154562227A>G , CM000663.1:g.154562227A>G | GRCh37 |
| NC_000001.9:g.152828851A>G | NCBI36 |
| NG_011844.1:g.43211T>C | |
| NG_011844.2:g.46810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.2562+6T>C | ENSP00000497790.2:n.2562+6T>C | |
| ENST00000649724.2:c.2698+6T>C | ENSP00000497932.2:n.2698+6T>C | |
| ENST00000680270.2:c.2551+6T>C | ENSP00000505532.2:n.2551+6T>C | |
| ENST00000681056.2:c.2320+6T>C | ENSP00000506234.2:n.2320+6T>C | |
| ENST00000368471.8:c.1783+6T>C | ENSP00000357456.3:n.1783+6T>C | |
| ENST00000368474.9:c.2668+6T>C MANE Select | ENSP00000357459.4:n.2668+6T>C | |
| ENST00000529168.2:c.2590+6T>C | ENSP00000431794.2:n.2590+6T>C | |
| ENST00000647682.2:n.2653+6T>C | ||
| ENST00000648231.2:c.1783+6T>C | ENSP00000497555.1:n.1783+6T>C | |
| ENST00000648311.1:c.1783+6T>C | ENSP00000498137.1:n.1783+6T>C | |
| ENST00000648714.2:c.*143+6T>C | ENSP00000497434.2:n.*143+6T>C | |
| ENST00000649021.1:n.2704+6T>C | ||
| ENST00000649022.2:c.1783+6T>C | ENSP00000496896.2:n.1783+6T>C | |
| ENST00000649042.1:c.1783+6T>C | ENSP00000497790.1:n.1783+6T>C | |
| ENST00000649408.2:c.2668+6T>C | ENSP00000497386.2:n.2668+6T>C | |
| ENST00000649724.1:c.1783+6T>C | ENSP00000497932.1:n.1783+6T>C | |
| ENST00000649749.1:c.1783+6T>C | ENSP00000497210.1:n.1783+6T>C | |
| ENST00000679375.1:c.*900+6T>C | ENSP00000505887.1:n.*900+6T>C | |
| ENST00000679465.1:n.3121+6T>C | ||
| ENST00000679805.1:n.2704+6T>C | ||
| ENST00000679899.1:c.1726+6T>C | ENSP00000505996.1:n.1726+6T>C | |
| ENST00000680270.1:c.1783+6T>C | ENSP00000505532.1:n.1783+6T>C | |
| ENST00000680305.1:c.2668+6T>C | ENSP00000506312.1:n.2668+6T>C | |
| ENST00000681056.1:c.1783+6T>C | ENSP00000506234.1:n.1783+6T>C | |
| ENST00000681235.1:c.*2190+6T>C | ENSP00000506606.1:n.*2190+6T>C | |
| ENST00000681429.1:n.1928+6T>C | ||
| ENST00000681683.1:c.1783+6T>C | ENSP00000506666.1:n.1783+6T>C | |
| ENST00000681786.1:n.3121+6T>C | ||
| ENST00000681901.1:c.*2268+6T>C | ENSP00000504883.1:n.*2268+6T>C | |
| ENST00000368471.7:c.1783+6T>C | ENSP00000357456.3:n.1783+6T>C | |
| ENST00000368474.8:c.2668+6T>C | ENSP00000357459.4:n.2668+6T>C | |
| ENST00000529168.1:c.2575+6T>C | ENSP00000431794.1:n.2575+6T>C | |
| NM_001025107.2:c.1783+6T>C | NP_001020278.1:n.1783+6T>C | |
| NM_001111.4:c.2668+6T>C | NP_001102.2:n.2668+6T>C | |
| NM_001193495.1:c.1783+6T>C | NP_001180424.1:n.1783+6T>C | |
| NM_015840.3:c.2590+6T>C | NP_056655.2:n.2590+6T>C | |
| NM_015841.3:c.2533+6T>C | NP_056656.2:n.2533+6T>C | |
| XM_006711109.1:c.2698+6T>C | XP_006711172.1:n.2698+6T>C | |
| XM_006711111.2:c.1783+6T>C | XP_006711174.1:n.1783+6T>C | |
| XM_006711112.1:c.1783+6T>C | XP_006711175.1:n.1783+6T>C | |
| XM_006711113.1:c.1783+6T>C | XP_006711176.1:n.1783+6T>C | |
| XM_011509060.1:c.2797+6T>C | XP_011507362.1:n.2797+6T>C | |
| XM_011509061.1:c.2719+6T>C | XP_011507363.1:n.2719+6T>C | |
| XM_011509062.1:c.2686+6T>C | XP_011507364.1:n.2686+6T>C | |
| NM_001025107.3:c.1783+6T>C | NP_001020278.1:n.1783+6T>C | |
| NM_001111.5:c.2668+6T>C MANE Select | NP_001102.3:n.2668+6T>C | |
| NM_001193495.2:c.1783+6T>C | NP_001180424.1:n.1783+6T>C | |
| NM_001365045.1:c.2695+6T>C | NP_001351974.1:n.2695+6T>C | |
| NM_001365046.1:c.1783+6T>C | NP_001351975.1:n.1783+6T>C | |
| NM_001365047.1:c.1783+6T>C | NP_001351976.1:n.1783+6T>C | |
| NM_001365048.1:c.1783+6T>C | NP_001351977.1:n.1783+6T>C | |
| NM_001365049.1:c.1705+6T>C | NP_001351978.1:n.1705+6T>C | |
| NM_015840.4:c.2590+6T>C | NP_056655.3:n.2590+6T>C | |
| NM_015841.4:c.2533+6T>C | NP_056656.3:n.2533+6T>C | |
| XM_006711113.2:c.1783+6T>C | XP_006711176.1:n.1783+6T>C | |
| XM_011509061.2:c.1705+6T>C | XP_011507363.2:n.1705+6T>C | |
| XM_024449674.1:c.2797+6T>C | XP_024305442.1:n.2797+6T>C |