Linked Data
dbSNP Id:
rs374192635
ExAC:
11:17515965 T / C
gnomAD v2:
11-17515965-T-C
gnomAD v3:
11-17494418-T-C
gnomAD v4:
11-17494418-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17494418T>C , CM000673.2:g.17494418T>C | GRCh38 |
| NC_000011.9:g.17515965T>C , CM000673.1:g.17515965T>C | GRCh37 |
| NC_000011.8:g.17472541T>C | NCBI36 |
| NG_011883.1:g.54999A>G | |
| NG_011883.2:g.54999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2656-42A>G MANE Select | ENSP00000005226.7:n.2656-42A>G | |
| ENST00000318024.9:c.1647-42A>G MANE Plus Clinical | ENSP00000317018.4:n.1647-42A>G | |
| ENST00000005226.11:c.2656-42A>G | ENSP00000005226.7:n.2656-42A>G | |
| ENST00000318024.8:c.1647-42A>G | ENSP00000317018.4:n.1647-42A>G | |
| ENST00000526313.5:c.*361-42A>G | ENSP00000432236.1:n.*361-42A>G | |
| ENST00000527020.5:c.1590-42A>G | ENSP00000436934.1:n.1590-42A>G | |
| ENST00000527551.1:n.157-42A>G | ||
| ENST00000527720.5:c.1554-42A>G | ENSP00000432944.1:n.1554-42A>G | |
| ENST00000529563.5:n.531-42A>G | ||
| ENST00000624811.1:n.676A>G | ||
| NM_001297764.1:c.1590-42A>G | NP_001284693.1:n.1590-42A>G | |
| NM_005709.3:c.1647-42A>G | NP_005700.2:n.1647-42A>G | |
| NM_153676.3:c.2656-42A>G | NP_710142.1:n.2656-42A>G | |
| NR_123738.1:n.1682-42A>G | ||
| XM_011519831.1:c.2571-42A>G | XP_011518133.1:n.2571-42A>G | |
| XM_011519832.1:c.1800-42A>G | XP_011518134.1:n.1800-42A>G | |
| XM_011519832.3:c.1800-42A>G | XP_011518134.1:n.1800-42A>G | |
| XM_017017075.1:c.*935A>G | XP_016872564.1:n.*935A>G | |
| XR_001747717.2:n.1806-42A>G | ||
| NM_153676.4:c.2656-42A>G MANE Select | NP_710142.1:n.2656-42A>G | |
| NM_001297764.2:c.1590-42A>G | NP_001284693.1:n.1590-42A>G | |
| NM_005709.4:c.1647-42A>G MANE Plus Clinical | NP_005700.2:n.1647-42A>G | |
| NR_123738.2:n.1682-42A>G |