Linked Data
ClinVar Variation Id:
1123294
ClinVar RCV Id:
RCV001454287
dbSNP Id:
rs2227647
ExAC:
7:100771748 A / C
gnomAD v2:
7-100771748-A-C
gnomAD v3:
7-101128467-A-C
gnomAD v4:
7-101128467-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101128467A>C , CM000669.2:g.101128467A>C | GRCh38 |
| NC_000007.13:g.100771748A>C , CM000669.1:g.100771748A>C | GRCh37 |
| NC_000007.12:g.100558468A>C | NCBI36 |
| NG_013213.1:g.6370A>C , LRG_597:g.6370A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.74A>C MANE Select | ENSP00000223095.4:p.His25Pro | |
| ENST00000223095.4:c.74A>C | ENSP00000223095.4:p.His25Pro | |
| NM_000602.4:c.74A>C , LRG_597t1:c.74A>C | NP_000593.1:p.His25Pro | |
| NM_000602.5:c.74A>C MANE Select | NP_000593.1:p.His25Pro | |
| NM_001386456.1:c.-32-147A>C | NP_001373385.1:n.-32-147A>C | |
| NM_001386457.1:c.74A>C | NP_001373386.1:p.His25Pro | |
| NM_001386458.1:c.74A>C | NP_001373387.1:p.His25Pro | |
| NM_001386459.1:c.74A>C | NP_001373388.1:p.His25Pro | |
| NM_001386460.1:c.74A>C | NP_001373389.1:p.His25Pro | |
| NM_001386461.1:c.74A>C | NP_001373390.1:p.His25Pro | |
| NM_001386462.1:c.-69-59A>C | NP_001373391.1:n.-69-59A>C | |
| NM_001386463.1:c.68A>C | NP_001373392.1:p.His23Pro | |
| NM_001386464.1:c.74A>C | NP_001373393.1:p.His25Pro | |
| NM_001386465.1:c.74A>C | NP_001373394.1:p.His25Pro | |
| NM_001386466.1:c.74A>C | NP_001373395.1:p.His25Pro |