Linked Data
ClinVar Variation Id:
2724335
ClinVar RCV Id:
RCV003583494
dbSNP Id:
rs574350911
ExAC:
5:137781165 C / T
gnomAD v2:
5-137781165-C-T
gnomAD v3:
5-138445476-C-T
gnomAD v4:
5-138445476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138445476C>T , CM000667.2:g.138445476C>T | GRCh38 |
| NC_000005.9:g.137781165C>T , CM000667.1:g.137781165C>T | GRCh37 |
| NC_000005.8:g.137809064C>T | NCBI36 |
| NG_033967.1:g.11476C>T | |
| NG_033967.2:g.11476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378339.7:c.574C>T MANE Select | ENSP00000367590.2:p.Pro192Ser | |
| ENST00000254901.9:c.568C>T | ENSP00000254901.5:p.Pro190Ser | |
| ENST00000378339.6:c.574C>T | ENSP00000367590.2:p.Pro192Ser | |
| ENST00000504163.1:n.387C>T | ||
| ENST00000506158.5:c.454C>T | ENSP00000422530.1:p.Pro152Ser | |
| ENST00000507635.5:n.479C>T | ||
| ENST00000613650.1:c.*2C>T | ENSP00000479268.1:n.*2C>T | |
| NM_001271803.1:c.574C>T | NP_001258732.1:p.Pro192Ser | |
| NM_016606.3:c.568C>T | NP_057690.2:p.Pro190Ser | |
| NR_073448.1:n.851C>T | ||
| NR_073449.1:n.857C>T | ||
| NM_001271803.2:c.574C>T MANE Select | NP_001258732.1:p.Pro192Ser | |
| NM_016606.4:c.568C>T | NP_057690.2:p.Pro190Ser | |
| NR_073448.2:n.795C>T | ||
| NR_073449.2:n.801C>T |