Linked Data
ClinVar Variation Id:
291972
ClinVar RCV Id:
RCV000313412
dbSNP Id:
rs9724643
gnomAD v2:
1-115250299-T-G
gnomAD v3:
1-114707678-T-G
gnomAD v4:
1-114707678-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114707678T>G , CM000663.2:g.114707678T>G | GRCh38 |
| NC_000001.10:g.115250299T>G , CM000663.1:g.115250299T>G | GRCh37 |
| NC_000001.9:g.115051822T>G | NCBI36 |
| NG_007572.1:g.14217A>C , LRG_92:g.14217A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*416A>C MANE Select | ENSP00000358548.4:n.*416A>C | |
| ENST00000369535.4:c.*416A>C | ENSP00000358548.4:n.*416A>C | |
| NM_002524.4:c.*416A>C | NP_002515.1:n.*416A>C | |
| NM_002524.5:c.*416A>C MANE Select | NP_002515.1:n.*416A>C |