Linked Data
ClinVar Variation Id:
319096
ClinVar RCV Id:
RCV000344931
dbSNP Id:
rs181380218
gnomAD v2:
16-3292502-C-T
gnomAD v3:
16-3242502-C-T
gnomAD v4:
16-3242502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3242502C>T , CM000678.2:g.3242502C>T | GRCh38 |
| NC_000016.9:g.3292502C>T , CM000678.1:g.3292502C>T | GRCh37 |
| NC_000016.8:g.3232503C>T | NCBI36 |
| NG_007871.1:g.19126G>A , LRG_190:g.19126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.*639G>A MANE Select | ENSP00000219596.1:n.*639G>A | |
| ENST00000219596.5:c.*639G>A | ENSP00000219596.1:n.*639G>A | |
| ENST00000339854.8:c.*639G>A | ENSP00000339639.4:n.*639G>A | |
| ENST00000536980.5:c.*1261G>A | ENSP00000444178.1:n.*1261G>A | |
| ENST00000537682.5:c.*1261G>A | ENSP00000438611.1:n.*1261G>A | |
| ENST00000538326.5:c.*1610G>A | ENSP00000437486.1:n.*1610G>A | |
| ENST00000542898.5:c.*1261G>A | ENSP00000444615.1:n.*1261G>A | |
| NM_000243.2:c.*639G>A , LRG_190t1:c.*639G>A | NP_000234.1:n.*639G>A | |
| NM_001198536.1:c.*1189G>A | NP_001185465.1:n.*1189G>A | |
| NM_000243.3:c.*639G>A MANE Select | NP_000234.1:n.*639G>A | |
| NM_001198536.2:c.*1189G>A | NP_001185465.2:n.*1189G>A |