Linked Data
ClinVar Variation Id:
138287
dbSNP Id:
rs7526063
ExAC:
1:236971998 C / T
gnomAD v2:
1-236971998-C-T
gnomAD v3:
1-236808698-C-T
gnomAD v4:
1-236808698-C-T
COSMIC:
COSM146835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236808698C>T , CM000663.2:g.236808698C>T | GRCh38 |
| NC_000001.10:g.236971998C>T , CM000663.1:g.236971998C>T | GRCh37 |
| NC_000001.9:g.235038621C>T | NCBI36 |
| NG_008959.1:g.18418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.340-6C>T MANE Select | ENSP00000355536.5:n.340-6C>T | |
| ENST00000535889.6:c.340-6C>T | ENSP00000441845.1:n.340-6C>T | |
| ENST00000650888.1:c.340-6C>T | ENSP00000498393.1:n.340-6C>T | |
| ENST00000651455.1:c.340-6C>T | ENSP00000498963.1:n.340-6C>T | |
| ENST00000652435.1:c.-9-6C>T | ENSP00000505932.1:n.-9-6C>T | |
| ENST00000674797.2:c.-9-6C>T | ENSP00000502299.2:n.-9-6C>T | |
| ENST00000679569.1:n.654-6C>T | ||
| ENST00000679842.1:c.340-6C>T | ENSP00000506109.1:n.340-6C>T | |
| ENST00000680454.1:n.784-6C>T | ||
| ENST00000681102.1:c.340-6C>T | ENSP00000505600.1:n.340-6C>T | |
| ENST00000681177.1:c.340-6C>T | ENSP00000506327.1:n.340-6C>T | |
| ENST00000366577.9:c.340-6C>T | ENSP00000355536.5:n.340-6C>T | |
| ENST00000463959.1:n.429-1805C>T | ||
| ENST00000535889.5:c.340-6C>T | ENSP00000441845.1:n.340-6C>T | |
| NM_000254.2:c.340-6C>T | NP_000245.2:n.340-6C>T | |
| NM_001291939.1:c.340-6C>T | NP_001278868.1:n.340-6C>T | |
| NM_001291940.1:c.-769-6C>T | NP_001278869.1:n.-769-6C>T | |
| XM_005273141.3:c.337-6C>T | XP_005273198.1:n.337-6C>T | |
| XM_006711769.2:c.340-6C>T | XP_006711832.1:n.340-6C>T | |
| XM_011544193.1:c.340-6C>T | XP_011542495.1:n.340-6C>T | |
| XM_011544194.1:c.508-6C>T | XP_011542496.1:n.508-6C>T | |
| XM_005273141.5:c.337-6C>T | XP_005273198.1:n.337-6C>T | |
| XM_011544194.3:c.508-6C>T | XP_011542496.1:n.508-6C>T | |
| XM_017001329.2:c.508-6C>T | XP_016856818.1:n.508-6C>T | |
| XM_017001330.2:c.508-6C>T | XP_016856819.1:n.508-6C>T | |
| NM_001291940.2:c.-769-6C>T | NP_001278869.1:n.-769-6C>T | |
| NM_000254.3:c.340-6C>T MANE Select | NP_000245.2:n.340-6C>T |