Linked Data
ClinVar Variation Id:
308918
dbSNP Id:
rs886049447
gnomAD v2:
12-48375190-G-A
gnomAD v3:
12-47981407-G-A
gnomAD v4:
12-47981407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47981407G>A , CM000674.2:g.47981407G>A | GRCh38 |
| NC_000012.11:g.48375190G>A , CM000674.1:g.48375190G>A | GRCh37 |
| NC_000012.10:g.46661457G>A | NCBI36 |
| NG_008072.1:g.28096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2203-11C>T | ENSP00000338213.6:n.2203-11C>T | |
| ENST00000380518.8:c.2410-11C>T MANE Select | ENSP00000369889.3:n.2410-11C>T | |
| ENST00000337299.6:c.2203-11C>T | ENSP00000338213.6:n.2203-11C>T | |
| ENST00000380518.7:c.2410-11C>T | ENSP00000369889.3:n.2410-11C>T | |
| ENST00000483376.1:n.588-11C>T | ||
| ENST00000493991.5:n.1496-11C>T | ||
| NM_001844.4:c.2410-11C>T | NP_001835.3:n.2410-11C>T | |
| NM_033150.2:c.2203-11C>T | NP_149162.2:n.2203-11C>T | |
| XM_006719242.2:c.2554-11C>T | XP_006719305.2:n.2554-11C>T | |
| XM_011537928.1:c.2554-11C>T | XP_011536230.1:n.2554-11C>T | |
| XM_011537929.1:c.2554-11C>T | XP_011536231.1:n.2554-11C>T | |
| XM_011537930.1:c.2554-11C>T | XP_011536232.1:n.2554-11C>T | |
| XM_011537931.1:c.2554-11C>T | XP_011536233.1:n.2554-11C>T | |
| XM_011537932.1:c.2554-11C>T | XP_011536234.1:n.2554-11C>T | |
| XM_011537933.1:c.2554-11C>T | XP_011536235.1:n.2554-11C>T | |
| XM_011537934.1:c.2551-11C>T | XP_011536236.1:n.2551-11C>T | |
| XM_011537935.1:c.1498-11C>T | XP_011536237.1:n.1498-11C>T | |
| XR_944910.1:n.189G>A | ||
| XM_017018828.1:c.2554-11C>T | XP_016874317.1:n.2554-11C>T | |
| XM_017018829.1:c.2551-11C>T | XP_016874318.1:n.2551-11C>T | |
| XM_017018830.1:c.2344-11C>T | XP_016874319.1:n.2344-11C>T | |
| XM_017018831.2:c.1864-11C>T | XP_016874320.1:n.1864-11C>T | |
| NM_001844.5:c.2410-11C>T MANE Select | NP_001835.3:n.2410-11C>T | |
| NM_033150.3:c.2203-11C>T | NP_149162.2:n.2203-11C>T |