Linked Data
ClinVar Variation Id:
901299
ClinVar RCV Id:
RCV001147091
dbSNP Id:
rs1015563368
gnomAD v2:
22-21242334-A-C
gnomAD v3:
22-20888046-A-C
gnomAD v4:
22-20888046-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888046A>C , CM000684.2:g.20888046A>C | GRCh38 |
| NC_000022.10:g.21242334A>C , CM000684.1:g.21242334A>C | GRCh37 |
| NC_000022.9:g.19572334A>C | NCBI36 |
| NG_012152.1:g.34043A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*210A>C MANE Select | ENSP00000215730.6:n.*210A>C | |
| ENST00000215730.11:c.*210A>C | ENSP00000215730.6:n.*210A>C | |
| NM_004782.3:c.*210A>C | NP_004773.1:n.*210A>C | |
| NM_004782.4:c.*210A>C MANE Select | NP_004773.1:n.*210A>C |