Linked Data
ClinVar Variation Id:
293230
dbSNP Id:
rs139828188
ExAC:
1:160252237 A / G
gnomAD v2:
1-160252237-A-G
gnomAD v3:
1-160282447-A-G
gnomAD v4:
1-160282447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160282447A>G , CM000663.2:g.160282447A>G | GRCh38 |
| NC_000001.10:g.160252237A>G , CM000663.1:g.160252237A>G | GRCh37 |
| NC_000001.9:g.158518861A>G | NCBI36 |
| NG_008637.1:g.7705T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.402T>C MANE Select | ENSP00000357051.5:p.Ser134= | |
| ENST00000556710.6:c.*114-247T>C | ENSP00000451235.2:n.*114-247T>C | |
| ENST00000368072.9:c.402T>C | ENSP00000357051.5:p.Ser134= | |
| ENST00000392220.2:c.342T>C | ENSP00000376054.2:p.Ser114= | |
| ENST00000462644.5:c.287-247T>C | ENSP00000435896.1:n.287-247T>C | |
| ENST00000472750.5:c.*169T>C | ENSP00000434633.1:n.*169T>C | |
| ENST00000485079.1:c.12T>C | ENSP00000450870.1:p.Ser4= | |
| ENST00000524939.1:n.419T>C | ||
| ENST00000532508.5:n.374T>C | ||
| ENST00000532516.1:n.73T>C | ||
| ENST00000532643.5:c.347-247T>C | ENSP00000435915.1:n.347-247T>C | |
| ENST00000533104.1:n.419T>C | ||
| ENST00000533699.5:n.396T>C | ||
| ENST00000556710.5:c.-9-247T>C | ENSP00000451235.1:n.-9-247T>C | |
| NM_001193644.1:c.402T>C | NP_001180573.1:p.Ser134= | |
| NM_002857.3:c.402T>C | NP_002848.1:p.Ser134= | |
| NR_036492.1:n.319T>C | ||
| NR_036493.1:n.374-247T>C | ||
| NM_002857.4:c.402T>C MANE Select | NP_002848.1:p.Ser134= | |
| NR_036492.2:n.301T>C | ||
| NR_036493.2:n.356-247T>C |