Linked Data
ClinVar Variation Id:
319086
ClinVar RCV Id:
RCV000268110
dbSNP Id:
rs450021
gnomAD v2:
16-3292085-C-A
gnomAD v3:
16-3242085-C-A
gnomAD v4:
16-3242085-C-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3242085C>A , CM000678.2:g.3242085C>A | GRCh38 |
| NC_000016.9:g.3292085C>A , CM000678.1:g.3292085C>A | GRCh37 |
| NC_000016.8:g.3232086C>A | NCBI36 |
| NG_007871.1:g.19543G>T , LRG_190:g.19543G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.*1056G>T MANE Select | ENSP00000219596.1:n.*1056G>T | |
| ENST00000219596.5:c.*1056G>T | ENSP00000219596.1:n.*1056G>T | |
| ENST00000339854.8:c.*1056G>T | ENSP00000339639.4:n.*1056G>T | |
| ENST00000536980.5:c.*1678G>T | ENSP00000444178.1:n.*1678G>T | |
| ENST00000537682.5:c.*1678G>T | ENSP00000438611.1:n.*1678G>T | |
| ENST00000538326.5:c.*2027G>T | ENSP00000437486.1:n.*2027G>T | |
| ENST00000542898.5:c.*1678G>T | ENSP00000444615.1:n.*1678G>T | |
| NM_000243.2:c.*1056G>T , LRG_190t1:c.*1056G>T | NP_000234.1:n.*1056G>T | |
| NM_001198536.1:c.*1606G>T | NP_001185465.1:n.*1606G>T | |
| NM_000243.3:c.*1056G>T MANE Select | NP_000234.1:n.*1056G>T | |
| NM_001198536.2:c.*1606G>T | NP_001185465.2:n.*1606G>T |