Linked Data
ClinVar Variation Id:
301887
ClinVar RCV Id:
RCV000289330
dbSNP Id:
rs7931399
gnomAD v2:
11-101323133-A-C
gnomAD v3:
11-101452402-A-C
gnomAD v4:
11-101452402-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101452402A>C , CM000673.2:g.101452402A>C | GRCh38 |
| NC_000011.9:g.101323133A>C , CM000673.1:g.101323133A>C | GRCh37 |
| NC_000011.8:g.100828343A>C | NCBI36 |
| NG_011476.1:g.136527T>G | |
| NG_011476.2:g.136527T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.*553T>G MANE Select | ENSP00000340913.3:n.*553T>G | |
| ENST00000344327.7:c.*553T>G | ENSP00000340913.3:n.*553T>G | |
| NM_004621.5:c.*553T>G | NP_004612.2:n.*553T>G | |
| XM_006718898.2:c.*553T>G | XP_006718961.1:n.*553T>G | |
| XM_011542968.1:c.*553T>G | XP_011541270.1:n.*553T>G | |
| XR_947953.1:n.3294A>C | ||
| XM_011542968.3:c.*553T>G | XP_011541270.1:n.*553T>G | |
| XM_017018221.2:c.*553T>G | XP_016873710.1:n.*553T>G | |
| XR_001747948.2:n.3706T>G | ||
| NM_004621.6:c.*553T>G MANE Select | NP_004612.2:n.*553T>G |