Linked Data
ClinVar Variation Id:
322521
ClinVar RCV Id:
RCV000308551
dbSNP Id:
rs1042173
gnomAD v2:
17-28525011-A-C
gnomAD v3:
17-30197993-A-C
gnomAD v4:
17-30197993-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30197993A>C , CM000679.2:g.30197993A>C | GRCh38 |
| NC_000017.10:g.28525011A>C , CM000679.1:g.28525011A>C | GRCh37 |
| NC_000017.9:g.25549137A>C | NCBI36 |
| NG_011747.2:g.42944T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650711.1:c.*463T>G MANE Select | ENSP00000498537.1:n.*463T>G | |
| ENST00000261707.7:c.*463T>G | ENSP00000261707.3:n.*463T>G | |
| ENST00000401766.6:c.*463T>G | ENSP00000385822.2:n.*463T>G | |
| ENST00000579221.5:c.997T>G | ||
| NM_001045.5:c.*463T>G | NP_001036.1:n.*463T>G | |
| NM_001045.6:c.*463T>G MANE Select | NP_001036.1:n.*463T>G |