Linked Data
ClinVar Variation Id:
1122834
ClinVar RCV Id:
RCV001453631
dbSNP Id:
rs747913628
gnomAD v4:
11-6390923-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390923A>C , CM000673.2:g.6390923A>C | GRCh38 |
| NC_000011.9:g.6412153A>C , CM000673.1:g.6412153A>C | GRCh37 |
| NC_000011.8:g.6368729A>C | NCBI36 |
| NG_011780.1:g.5499A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.318+7A>C MANE Select | ENSP00000340409.4:n.318+7A>C | |
| ENST00000342245.8:c.318+7A>C | ENSP00000340409.4:n.318+7A>C | |
| ENST00000527275.5:c.318+7A>C | ENSP00000435350.1:n.318+7A>C | |
| ENST00000530395.1:c.-96+284A>C | ENSP00000431479.1:n.-96+284A>C | |
| ENST00000531303.5:c.318+7A>C | ENSP00000432625.1:n.318+7A>C | |
| ENST00000533123.5:c.318+7A>C | ENSP00000435950.1:n.318+7A>C | |
| ENST00000533196.1:n.374+110A>C | ||
| ENST00000534405.5:c.318+7A>C | ENSP00000434353.1:n.318+7A>C | |
| NM_000543.4:c.318+7A>C | NP_000534.3:n.318+7A>C | |
| NM_001007593.2:c.318+7A>C | NP_001007594.2:n.318+7A>C | |
| XM_005253075.3:c.318+7A>C | XP_005253132.1:n.318+7A>C | |
| XM_011520303.1:c.318+7A>C | XP_011518605.1:n.318+7A>C | |
| XM_011520304.1:c.318+7A>C | XP_011518606.1:n.318+7A>C | |
| XR_930886.1:n.616+7A>C | ||
| NM_001318087.1:c.318+7A>C | NP_001305016.1:n.318+7A>C | |
| NM_001318088.1:c.-644+7A>C | NP_001305017.1:n.-644+7A>C | |
| NM_001365135.1:c.318+7A>C | NP_001352064.1:n.318+7A>C | |
| NR_027400.2:n.503+7A>C | ||
| NR_134502.1:n.503+7A>C | ||
| XM_011520304.2:c.318+7A>C | XP_011518606.1:n.318+7A>C | |
| XR_001747940.2:n.443+7A>C | ||
| XR_002957158.1:n.443+7A>C | ||
| NM_000543.5:c.318+7A>C MANE Select | NP_000534.3:n.318+7A>C | |
| NM_001007593.3:c.318+7A>C | NP_001007594.2:n.318+7A>C | |
| NM_001318087.2:c.318+7A>C | NP_001305016.1:n.318+7A>C | |
| NM_001318088.2:c.-644+7A>C | NP_001305017.1:n.-644+7A>C | |
| NM_001365135.2:c.318+7A>C | NP_001352064.1:n.318+7A>C | |
| NR_027400.3:n.443+7A>C | ||
| NR_134502.2:n.443+7A>C |