Linked Data
ClinVar Variation Id:
226905
dbSNP Id:
rs7114549
ExAC:
11:17653763 T / C
gnomAD v2:
11-17653763-T-C
gnomAD v3:
11-17632216-T-C
gnomAD v4:
11-17632216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17632216T>C , CM000673.2:g.17632216T>C | GRCh38 |
| NC_000011.9:g.17653763T>C , CM000673.1:g.17653763T>C | GRCh37 |
| NC_000011.8:g.17610339T>C | NCBI36 |
| NG_033191.1:g.89844T>C | |
| NG_033191.2:g.89844T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.7098T>C | ENSP00000382323.2:p.Ser2366= | |
| ENST00000399397.6:c.7062T>C MANE Select | ENSP00000382329.2:p.Ser2354= | |
| ENST00000342528.2:c.4116T>C | ENSP00000341666.2:p.Ser1372= | |
| ENST00000399391.6:c.7098T>C | ENSP00000382323.2:p.Ser2366= | |
| ENST00000399397.5:c.7062T>C | ENSP00000382329.2:p.Ser2354= | |
| NM_001277269.1:c.7098T>C | NP_001264198.1:p.Ser2366= | |
| NM_001292063.1:c.7062T>C | NP_001278992.1:p.Ser2354= | |
| NM_001277269.2:c.7098T>C | NP_001264198.1:p.Ser2366= | |
| NM_001292063.2:c.7062T>C MANE Select | NP_001278992.1:p.Ser2354= |