Linked Data
ClinVar Variation Id:
781114
ClinVar RCV Id:
RCV000962302
dbSNP Id:
rs73436933
ExAC:
7:132937917 C / T
gnomAD v2:
7-132937917-C-T
gnomAD v3:
7-133253161-C-T
gnomAD v4:
7-133253161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.133253161C>T , CM000669.2:g.133253161C>T | GRCh38 |
| NC_000007.13:g.132937917C>T , CM000669.1:g.132937917C>T | GRCh37 |
| NC_000007.12:g.132588457C>T | NCBI36 |
| NG_047176.1:g.5095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253861.5:c.60C>T MANE Select | ENSP00000253861.4:p.Pro20= | |
| ENST00000253861.4:c.60C>T | ENSP00000253861.4:p.Pro20= | |
| ENST00000393161.6:c.60C>T | ENSP00000376868.2:p.Pro20= | |
| ENST00000462055.5:n.67C>T | ||
| ENST00000481074.1:n.63C>T | ||
| ENST00000486013.5:n.89C>T | ||
| NM_001037126.1:c.60C>T | NP_001032203.1:p.Pro20= | |
| NM_021807.3:c.60C>T | NP_068579.3:p.Pro20= | |
| XM_005250523.3:c.60C>T | XP_005250580.1:p.Pro20= | |
| XM_005250523.5:c.60C>T | XP_005250580.1:p.Pro20= | |
| XR_001744845.2:n.87C>T | ||
| NM_021807.4:c.60C>T MANE Select | NP_068579.3:p.Pro20= | |
| NM_001037126.2:c.60C>T | NP_001032203.1:p.Pro20= |