Linked Data
ClinVar Variation Id:
319095
ClinVar RCV Id:
RCV000294923
dbSNP Id:
rs886051969
gnomAD v3:
16-3242462-G-C
gnomAD v4:
16-3242462-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3242462G>C , CM000678.2:g.3242462G>C | GRCh38 |
| NC_000016.9:g.3292462G>C , CM000678.1:g.3292462G>C | GRCh37 |
| NC_000016.8:g.3232463G>C | NCBI36 |
| NG_007871.1:g.19166C>G , LRG_190:g.19166C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.*679C>G MANE Select | ENSP00000219596.1:n.*679C>G | |
| ENST00000219596.5:c.*679C>G | ENSP00000219596.1:n.*679C>G | |
| ENST00000339854.8:c.*679C>G | ENSP00000339639.4:n.*679C>G | |
| ENST00000536980.5:c.*1301C>G | ENSP00000444178.1:n.*1301C>G | |
| ENST00000537682.5:c.*1301C>G | ENSP00000438611.1:n.*1301C>G | |
| ENST00000538326.5:c.*1650C>G | ENSP00000437486.1:n.*1650C>G | |
| ENST00000542898.5:c.*1301C>G | ENSP00000444615.1:n.*1301C>G | |
| NM_000243.2:c.*679C>G , LRG_190t1:c.*679C>G | NP_000234.1:n.*679C>G | |
| NM_001198536.1:c.*1229C>G | NP_001185465.1:n.*1229C>G | |
| NM_000243.3:c.*679C>G MANE Select | NP_000234.1:n.*679C>G | |
| NM_001198536.2:c.*1229C>G | NP_001185465.2:n.*1229C>G |