Linked Data
ClinVar Variation Id:
291941
ClinVar RCV Id:
RCV000352339
dbSNP Id:
rs886045097
gnomAD v3:
1-114704702-A-G
gnomAD v4:
1-114704702-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114704702A>G , CM000663.2:g.114704702A>G | GRCh38 |
| NC_000001.10:g.115247323A>G , CM000663.1:g.115247323A>G | GRCh37 |
| NC_000001.9:g.115048846A>G | NCBI36 |
| NG_007572.1:g.17193T>C , LRG_92:g.17193T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*3392T>C MANE Select | ENSP00000358548.4:n.*3392T>C | |
| ENST00000369535.4:c.*3392T>C | ENSP00000358548.4:n.*3392T>C | |
| NM_002524.4:c.*3392T>C | NP_002515.1:n.*3392T>C | |
| NM_002524.5:c.*3392T>C MANE Select | NP_002515.1:n.*3392T>C |