Linked Data
ClinVar Variation Id:
499763
dbSNP Id:
rs377606178
ExAC:
11:67817594 C / T
gnomAD v2:
11-67817594-C-T
gnomAD v3:
11-68050127-C-T
gnomAD v4:
11-68050127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68050127C>T , CM000673.2:g.68050127C>T | GRCh38 |
| NC_000011.9:g.67817594C>T , CM000673.1:g.67817594C>T | GRCh37 |
| NC_000011.8:g.67574170C>T | NCBI36 |
| NG_007878.1:g.16112C>T , LRG_115:g.16112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.1112-10C>T | ||
| ENST00000698254.1:c.1648-10C>T | ENSP00000513629.1:n.1648-10C>T | |
| ENST00000698255.1:c.2068-10C>T | ENSP00000513630.1:n.2068-10C>T | |
| ENST00000698256.1:c.1585-10C>T | ||
| ENST00000698257.1:n.1537-10C>T | ||
| ENST00000698258.1:n.1254-10C>T | ||
| ENST00000698259.1:n.1388-10C>T | ||
| ENST00000265686.8:c.2119-10C>T MANE Select | ENSP00000265686.3:n.2119-10C>T | |
| ENST00000265686.7:c.2119-10C>T | ENSP00000265686.3:n.2119-10C>T | |
| ENST00000524870.1:n.747-10C>T | ||
| ENST00000525724.5:n.1431-10C>T | ||
| ENST00000530063.1:c.22-10C>T | ENSP00000432957.1:n.22-10C>T | |
| ENST00000530449.1:n.15-10C>T | ||
| ENST00000532635.5:c.1471-10C>T | ENSP00000434407.1:n.1471-10C>T | |
| ENST00000533005.5:n.1232-10C>T | ||
| NM_006019.3:c.2119-10C>T | NP_006010.2:n.2119-10C>T | |
| NM_006053.3:c.1471-10C>T | NP_006044.1:n.1471-10C>T | |
| XM_005273709.2:c.2119-10C>T | XP_005273766.1:n.2119-10C>T | |
| XM_011544726.1:c.2119-10C>T | XP_011543028.1:n.2119-10C>T | |
| XM_011544727.1:c.2119-10C>T | XP_011543029.1:n.2119-10C>T | |
| XR_949754.1:n.2266-10C>T | ||
| NM_001351059.1:c.1225-10C>T | NP_001337988.1:n.1225-10C>T | |
| XM_024448320.1:c.2212-10C>T | XP_024304088.1:n.2212-10C>T | |
| XM_024448321.1:c.2212-10C>T | XP_024304089.1:n.2212-10C>T | |
| XM_024448322.1:c.2212-10C>T | XP_024304090.1:n.2212-10C>T | |
| XM_024448323.1:c.2212-10C>T | XP_024304091.1:n.2212-10C>T | |
| XR_001747721.2:n.2288-10C>T | ||
| XR_001747722.1:n.2256-10C>T | ||
| XR_001747723.2:n.2301-10C>T | ||
| XR_002957115.1:n.2477-10C>T | ||
| NM_006019.4:c.2119-10C>T MANE Select | NP_006010.2:n.2119-10C>T | |
| NM_001351059.2:c.1225-10C>T | NP_001337988.1:n.1225-10C>T | |
| NM_006053.4:c.1471-10C>T | NP_006044.1:n.1471-10C>T |