Linked Data
ClinVar Variation Id:
291968
ClinVar RCV Id:
RCV000395755
dbSNP Id:
rs886045107
gnomAD v3:
1-114707320-T-C
gnomAD v4:
1-114707320-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114707320T>C , CM000663.2:g.114707320T>C | GRCh38 |
| NC_000001.10:g.115249941T>C , CM000663.1:g.115249941T>C | GRCh37 |
| NC_000001.9:g.115051464T>C | NCBI36 |
| NG_007572.1:g.14575A>G , LRG_92:g.14575A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*774A>G MANE Select | ENSP00000358548.4:n.*774A>G | |
| ENST00000369535.4:c.*774A>G | ENSP00000358548.4:n.*774A>G | |
| NM_002524.4:c.*774A>G | NP_002515.1:n.*774A>G | |
| NM_002524.5:c.*774A>G MANE Select | NP_002515.1:n.*774A>G |