Linked Data
ClinVar Variation Id:
319104
ClinVar RCV Id:
RCV000297771
dbSNP Id:
rs562541179
gnomAD v3:
16-3242861-C-G
gnomAD v4:
16-3242861-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3242861C>G , CM000678.2:g.3242861C>G | GRCh38 |
| NC_000016.9:g.3292861C>G , CM000678.1:g.3292861C>G | GRCh37 |
| NC_000016.8:g.3232862C>G | NCBI36 |
| NG_007871.1:g.18767G>C , LRG_190:g.18767G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1747G>C | ||
| ENST00000219596.6:c.*280G>C MANE Select | ENSP00000219596.1:n.*280G>C | |
| ENST00000219596.5:c.*280G>C | ENSP00000219596.1:n.*280G>C | |
| ENST00000339854.8:c.*280G>C | ENSP00000339639.4:n.*280G>C | |
| ENST00000536980.5:c.*902G>C | ENSP00000444178.1:n.*902G>C | |
| ENST00000537682.5:c.*902G>C | ENSP00000438611.1:n.*902G>C | |
| ENST00000538326.5:c.*1251G>C | ENSP00000437486.1:n.*1251G>C | |
| ENST00000542898.5:c.*902G>C | ENSP00000444615.1:n.*902G>C | |
| NM_000243.2:c.*280G>C , LRG_190t1:c.*280G>C | NP_000234.1:n.*280G>C | |
| NM_001198536.1:c.*830G>C | NP_001185465.1:n.*830G>C | |
| NM_000243.3:c.*280G>C MANE Select | NP_000234.1:n.*280G>C | |
| NM_001198536.2:c.*830G>C | NP_001185465.2:n.*830G>C |