Linked Data
ClinVar Variation Id:
305204
dbSNP Id:
rs140221837
ExAC:
11:6414935 A / T
gnomAD v2:
11-6414935-A-T
gnomAD v3:
11-6393705-A-T
gnomAD v4:
11-6393705-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393705A>T , CM000673.2:g.6393705A>T | GRCh38 |
| NC_000011.9:g.6414935A>T , CM000673.1:g.6414935A>T | GRCh37 |
| NC_000011.8:g.6371511A>T | NCBI36 |
| NG_011780.1:g.8281A>T | |
| NG_029615.1:g.30710T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1340+12A>T MANE Select | ENSP00000340409.4:n.1340+12A>T | |
| ENST00000342245.8:c.1340+12A>T | ENSP00000340409.4:n.1340+12A>T | |
| ENST00000526280.1:c.397+12A>T | ||
| ENST00000527275.5:c.1337+12A>T | ENSP00000435350.1:n.1337+12A>T | |
| ENST00000531303.5:c.*171+12A>T | ENSP00000432625.1:n.*171+12A>T | |
| ENST00000531336.1:n.172+12A>T | ||
| ENST00000532367.1:n.176+12A>T | ||
| ENST00000533123.5:c.*67+12A>T | ENSP00000435950.1:n.*67+12A>T | |
| ENST00000534405.5:c.*171+12A>T | ENSP00000434353.1:n.*171+12A>T | |
| NM_000543.4:c.1340+12A>T | NP_000534.3:n.1340+12A>T | |
| NM_001007593.2:c.1337+12A>T | NP_001007594.2:n.1337+12A>T | |
| XM_005253075.3:c.1340+12A>T | XP_005253132.1:n.1340+12A>T | |
| XM_011520303.1:c.1208+12A>T | XP_011518605.1:n.1208+12A>T | |
| XM_011520304.1:c.1208+12A>T | XP_011518606.1:n.1208+12A>T | |
| XR_930886.1:n.1678+12A>T | ||
| NM_001318087.1:c.1340+12A>T | NP_001305016.1:n.1340+12A>T | |
| NM_001318088.1:c.419+12A>T | NP_001305017.1:n.419+12A>T | |
| NM_001365135.1:c.1208+12A>T | NP_001352064.1:n.1208+12A>T | |
| NR_027400.2:n.1353+12A>T | ||
| NR_134502.1:n.872+12A>T | ||
| XM_011520304.2:c.1208+12A>T | XP_011518606.1:n.1208+12A>T | |
| XR_001747940.2:n.1505+12A>T | ||
| XR_002957158.1:n.1517A>T | ||
| NM_000543.5:c.1340+12A>T MANE Select | NP_000534.3:n.1340+12A>T | |
| NM_001007593.3:c.1337+12A>T | NP_001007594.2:n.1337+12A>T | |
| NM_001318087.2:c.1340+12A>T | NP_001305016.1:n.1340+12A>T | |
| NM_001318088.2:c.419+12A>T | NP_001305017.1:n.419+12A>T | |
| NM_001365135.2:c.1208+12A>T | NP_001352064.1:n.1208+12A>T | |
| NR_027400.3:n.1293+12A>T | ||
| NR_134502.2:n.812+12A>T |