Linked Data
ClinVar Variation Id:
2918899
ClinVar RCV Id:
RCV003739191
dbSNP Id:
rs376554417
gnomAD v2:
11-67815338-C-T
gnomAD v3:
11-68047871-C-T
gnomAD v4:
11-68047871-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047871C>T , CM000673.2:g.68047871C>T | GRCh38 |
| NC_000011.9:g.67815338C>T , CM000673.1:g.67815338C>T | GRCh37 |
| NC_000011.8:g.67571914C>T | NCBI36 |
| NG_007878.1:g.13856C>T , LRG_115:g.13856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.89-11C>T | ||
| ENST00000698254.1:c.993-11C>T | ENSP00000513629.1:n.993-11C>T | |
| ENST00000698255.1:c.1413-11C>T | ENSP00000513630.1:n.1413-11C>T | |
| ENST00000698256.1:c.930-11C>T | ||
| ENST00000698257.1:n.882-11C>T | ||
| ENST00000698258.1:n.588C>T | ||
| ENST00000698259.1:n.354C>T | ||
| ENST00000265686.8:c.1464-11C>T MANE Select | ENSP00000265686.3:n.1464-11C>T | |
| ENST00000265686.7:c.1464-11C>T | ENSP00000265686.3:n.1464-11C>T | |
| ENST00000525516.1:n.258-11C>T | ||
| ENST00000525724.5:n.776-11C>T | ||
| ENST00000528981.5:c.616-11C>T | ||
| ENST00000532635.5:c.816-11C>T | ENSP00000434407.1:n.816-11C>T | |
| ENST00000533005.5:n.566C>T | ||
| NM_006019.3:c.1464-11C>T | NP_006010.2:n.1464-11C>T | |
| NM_006053.3:c.816-11C>T | NP_006044.1:n.816-11C>T | |
| XM_005273709.2:c.1464-11C>T | XP_005273766.1:n.1464-11C>T | |
| XM_011544726.1:c.1464-11C>T | XP_011543028.1:n.1464-11C>T | |
| XM_011544727.1:c.1464-11C>T | XP_011543029.1:n.1464-11C>T | |
| XM_011544728.1:c.1464-11C>T | XP_011543030.1:n.1464-11C>T | |
| XM_011544729.1:c.1480-11C>T | XP_011543031.1:n.1480-11C>T | |
| XR_949754.1:n.1468-11C>T | ||
| NM_001351059.1:c.570-11C>T | NP_001337988.1:n.570-11C>T | |
| XM_024448320.1:c.1546C>T | XP_024304088.1:p.Arg516Cys | |
| XM_024448321.1:c.1546C>T | XP_024304089.1:p.Arg516Cys | |
| XM_024448322.1:c.1546C>T | XP_024304090.1:p.Arg516Cys | |
| XM_024448323.1:c.1546C>T | XP_024304091.1:p.Arg516Cys | |
| XM_024448324.1:c.1546C>T | XP_024304092.1:p.Arg516Cys | |
| XR_001747721.2:n.1588-11C>T | ||
| XR_001747722.1:n.1601-11C>T | ||
| XR_001747723.2:n.1601-11C>T | ||
| XR_002957115.1:n.1668C>T | ||
| NM_006019.4:c.1464-11C>T MANE Select | NP_006010.2:n.1464-11C>T | |
| NM_001351059.2:c.570-11C>T | NP_001337988.1:n.570-11C>T | |
| NM_006053.4:c.816-11C>T | NP_006044.1:n.816-11C>T |