Linked Data
ClinVar Variation Id:
319106
dbSNP Id:
rs11466050
gnomAD v2:
16-3293067-G-A
gnomAD v3:
16-3243067-G-A
gnomAD v4:
16-3243067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243067G>A , CM000678.2:g.3243067G>A | GRCh38 |
| NC_000016.9:g.3293067G>A , CM000678.1:g.3293067G>A | GRCh37 |
| NC_000016.8:g.3233068G>A | NCBI36 |
| NG_007871.1:g.18561C>T , LRG_190:g.18561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1541C>T | ||
| ENST00000219596.6:c.*74C>T MANE Select | ENSP00000219596.1:n.*74C>T | |
| ENST00000219596.5:c.*74C>T | ENSP00000219596.1:n.*74C>T | |
| ENST00000339854.8:c.*74C>T | ENSP00000339639.4:n.*74C>T | |
| ENST00000536980.5:c.*696C>T | ENSP00000444178.1:n.*696C>T | |
| ENST00000537682.5:c.*696C>T | ENSP00000438611.1:n.*696C>T | |
| ENST00000538326.5:c.*1045C>T | ENSP00000437486.1:n.*1045C>T | |
| ENST00000542898.5:c.*696C>T | ENSP00000444615.1:n.*696C>T | |
| NM_000243.2:c.*74C>T , LRG_190t1:c.*74C>T | NP_000234.1:n.*74C>T | |
| NM_001198536.1:c.*624C>T | NP_001185465.1:n.*624C>T | |
| NM_000243.3:c.*74C>T MANE Select | NP_000234.1:n.*74C>T | |
| NM_001198536.2:c.*624C>T | NP_001185465.2:n.*624C>T |