Linked Data
ClinVar Variation Id:
778240
dbSNP Id:
rs138675433
ExAC:
1:196759282 C / T
gnomAD v2:
1-196759282-C-T
gnomAD v3:
1-196790152-C-T
gnomAD v4:
1-196790152-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196790152C>T , CM000663.2:g.196790152C>T | GRCh38 |
| NC_000001.10:g.196759282C>T , CM000663.1:g.196759282C>T | GRCh37 |
| NC_000001.9:g.195025905C>T | NCBI36 |
| NG_015993.1:g.20353C>T , LRG_175:g.20353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696032.1:c.4243C>T | ENSP00000512341.1:p.Pro1415Ser | |
| ENST00000367425.9:c.721C>T MANE Select | ENSP00000356395.5:p.Pro241Ser | |
| ENST00000367425.8:c.721C>T | ENSP00000356395.4:p.Pro241Ser | |
| ENST00000367427.7:c.*222C>T | ENSP00000356397.3:n.*222C>T | |
| ENST00000391985.7:c.538C>T | ENSP00000375845.3:p.Pro180Ser | |
| ENST00000461558.2:n.393C>T | ||
| ENST00000617219.1:c.562+1805C>T | ENSP00000481905.1:n.562+1805C>T | |
| NM_001166624.1:c.538C>T | NP_001160096.1:p.Pro180Ser | |
| NM_021023.5:c.721C>T , LRG_175t1:c.721C>T | NP_066303.2:p.Pro241Ser | |
| XR_001736937.1:n.2092C>T | ||
| NM_021023.6:c.721C>T MANE Select | NP_066303.2:p.Pro241Ser | |
| NM_001166624.2:c.538C>T | NP_001160096.1:p.Pro180Ser |