Linked Data
ClinVar Variation Id:
319085
ClinVar RCV Id:
RCV000361418
dbSNP Id:
rs568129540
gnomAD v3:
16-3242061-T-C
gnomAD v4:
16-3242061-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3242061T>C , CM000678.2:g.3242061T>C | GRCh38 |
| NC_000016.9:g.3292061T>C , CM000678.1:g.3292061T>C | GRCh37 |
| NC_000016.8:g.3232062T>C | NCBI36 |
| NG_007871.1:g.19567A>G , LRG_190:g.19567A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.*1080A>G MANE Select | ENSP00000219596.1:n.*1080A>G | |
| ENST00000219596.5:c.*1080A>G | ENSP00000219596.1:n.*1080A>G | |
| ENST00000339854.8:c.*1080A>G | ENSP00000339639.4:n.*1080A>G | |
| ENST00000536980.5:c.*1702A>G | ENSP00000444178.1:n.*1702A>G | |
| ENST00000537682.5:c.*1702A>G | ENSP00000438611.1:n.*1702A>G | |
| ENST00000538326.5:c.*2051A>G | ENSP00000437486.1:n.*2051A>G | |
| ENST00000542898.5:c.*1702A>G | ENSP00000444615.1:n.*1702A>G | |
| NM_000243.2:c.*1080A>G , LRG_190t1:c.*1080A>G | NP_000234.1:n.*1080A>G | |
| NM_001198536.1:c.*1630A>G | NP_001185465.1:n.*1630A>G | |
| NM_000243.3:c.*1080A>G MANE Select | NP_000234.1:n.*1080A>G | |
| NM_001198536.2:c.*1630A>G | NP_001185465.2:n.*1630A>G |