Linked Data
ClinVar Variation Id:
302232
ClinVar RCV Id:
RCV000350632
dbSNP Id:
rs186239800
gnomAD v2:
11-108018870-C-T
gnomAD v3:
11-108148143-C-T
gnomAD v4:
11-108148143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108148143C>T , CM000673.2:g.108148143C>T | GRCh38 |
| NC_000011.9:g.108018870C>T , CM000673.1:g.108018870C>T | GRCh37 |
| NC_000011.8:g.107524080C>T | NCBI36 |
| NG_009888.1:g.31613C>T | |
| NG_009888.2:g.36439C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000019.3:c.*753C>T | NP_000010.1:n.*753C>T | |
| XM_006718834.2:c.*753C>T | XP_006718897.1:n.*753C>T | |
| XM_006718835.2:c.*753C>T | XP_006718898.1:n.*753C>T | |
| XM_017017682.2:c.*753C>T | XP_016873171.1:n.*753C>T | |
| XM_017017683.2:c.*753C>T | XP_016873172.1:n.*753C>T |