Linked Data
ClinVar Variation Id:
165182
dbSNP Id:
rs61733156
ExAC:
1:161326579 T / C
gnomAD v2:
1-161326579-T-C
gnomAD v3:
1-161356789-T-C
gnomAD v4:
1-161356789-T-C
PubMed:
PMID:17376234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356789T>C , CM000663.2:g.161356789T>C | GRCh38 |
| NC_000001.10:g.161326579T>C , CM000663.1:g.161326579T>C | GRCh37 |
| NC_000001.9:g.159593203T>C | NCBI36 |
| NG_012767.1:g.47414T>C , LRG_317:g.47414T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*355T>C | ENSP00000482902.2:n.*355T>C | |
| ENST00000367975.7:c.354T>C MANE Select | ENSP00000356953.3:p.Phe118= | |
| ENST00000342751.8:c.242-5540T>C | ENSP00000356952.3:n.242-5540T>C | |
| ENST00000367975.6:c.354T>C | ENSP00000356953.2:p.Phe118= | |
| ENST00000392169.6:c.195T>C | ENSP00000376009.2:p.Phe65= | |
| ENST00000432287.6:c.252T>C | ENSP00000390558.2:p.Phe84= | |
| ENST00000470743.4:c.452T>C | ||
| ENST00000504963.5:c.*177T>C | ENSP00000423929.1:n.*177T>C | |
| ENST00000513009.5:c.140-5540T>C | ENSP00000423260.1:n.140-5540T>C | |
| NM_001035511.1:c.242-5540T>C | NP_001030588.1:n.242-5540T>C | |
| NM_001035512.1:c.252T>C | NP_001030589.1:p.Phe84= | |
| NM_001035513.1:c.195T>C | NP_001030590.1:p.Phe65= | |
| NM_001278172.1:c.140-5540T>C | NP_001265101.1:n.140-5540T>C | |
| NM_003001.3:c.354T>C , LRG_317t1:c.354T>C | NP_002992.1:p.Phe118= | |
| NR_103459.1:n.411T>C | ||
| NM_001035511.2:c.242-5540T>C | NP_001030588.1:n.242-5540T>C | |
| NM_001035512.2:c.252T>C | NP_001030589.1:p.Phe84= | |
| NM_001035513.2:c.195T>C | NP_001030590.1:p.Phe65= | |
| NM_001278172.2:c.140-5540T>C | NP_001265101.1:n.140-5540T>C | |
| NM_003001.5:c.354T>C MANE Select | NP_002992.1:p.Phe118= | |
| NR_103459.2:n.406T>C |