Linked Data
ClinVar Variation Id:
505763
dbSNP Id:
rs200566292
ExAC:
11:17660068 C / T
gnomAD v2:
11-17660068-C-T
gnomAD v3:
11-17638521-C-T
gnomAD v4:
11-17638521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17638521C>T , CM000673.2:g.17638521C>T | GRCh38 |
| NC_000011.9:g.17660068C>T , CM000673.1:g.17660068C>T | GRCh37 |
| NC_000011.8:g.17616644C>T | NCBI36 |
| NG_033191.1:g.96149C>T | |
| NG_033191.2:g.96149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7902C>T | ENSP00000382323.2:p.Pro2634= | |
| ENST00000399397.6:c.7866C>T MANE Select | ENSP00000382329.2:p.Pro2622= | |
| ENST00000342528.2:c.4494C>T | ENSP00000341666.2:p.Pro1498= | |
| ENST00000399391.6:c.7902C>T | ENSP00000382323.2:p.Pro2634= | |
| ENST00000399397.5:c.7866C>T | ENSP00000382329.2:p.Pro2622= | |
| NM_001277269.1:c.7902C>T | NP_001264198.1:p.Pro2634= | |
| NM_001292063.1:c.7866C>T | NP_001278992.1:p.Pro2622= | |
| NM_001277269.2:c.7902C>T | NP_001264198.1:p.Pro2634= | |
| NM_001292063.2:c.7866C>T MANE Select | NP_001278992.1:p.Pro2622= |