Linked Data
ClinVar Variation Id:
210981
dbSNP Id:
rs189384185
ExAC:
6:35434010 C / T
gnomAD v2:
6-35434010-C-T
gnomAD v3:
6-35466233-C-T
gnomAD v4:
6-35466233-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35466233C>T , CM000668.2:g.35466233C>T | GRCh38 |
| NC_000006.11:g.35434010C>T , CM000668.1:g.35434010C>T | GRCh37 |
| NC_000006.10:g.35541988C>T | NCBI36 |
| NG_011708.1:g.18873C>T , LRG_498:g.18873C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.1317-11C>T | ENSP00000512511.1:n.1317-11C>T | |
| ENST00000696265.1:c.1443-11C>T | ENSP00000512512.1:n.1443-11C>T | |
| ENST00000696266.1:c.1155-11C>T | ENSP00000512513.1:n.1155-11C>T | |
| ENST00000696267.1:n.1777-11C>T | ||
| ENST00000696269.1:n.1126-11C>T | ||
| ENST00000229769.3:c.1510-11C>T MANE Select | ENSP00000229769.2:n.1510-11C>T | |
| ENST00000648059.1:c.*131-11C>T | ENSP00000497902.1:n.*131-11C>T | |
| ENST00000229769.2:c.1510-11C>T | ENSP00000229769.2:n.1510-11C>T | |
| NM_021922.2:c.1510-11C>T , LRG_498t1:c.1510-11C>T | NP_068741.1:n.1510-11C>T | |
| XM_005248885.2:c.1489-11C>T | XP_005248942.1:n.1489-11C>T | |
| XM_005248886.2:c.1441-11C>T | XP_005248943.1:n.1441-11C>T | |
| XM_005248887.2:c.1384-11C>T | XP_005248944.1:n.1384-11C>T | |
| XM_005248888.2:c.1317-11C>T | XP_005248945.1:n.1317-11C>T | |
| XM_011514343.1:c.1216-11C>T | XP_011512645.1:n.1216-11C>T | |
| XM_011514344.1:c.1216-11C>T | XP_011512646.1:n.1216-11C>T | |
| XM_005248888.3:c.1317-11C>T | XP_005248945.1:n.1317-11C>T | |
| XM_011514343.2:c.1216-11C>T | XP_011512645.1:n.1216-11C>T | |
| XR_001743226.1:n.1650-11C>T | ||
| XR_002956267.1:n.1944-11C>T | ||
| NM_021922.3:c.1510-11C>T MANE Select | NP_068741.1:n.1510-11C>T |