Linked Data
ClinVar Variation Id:
291969
ClinVar RCV Id:
RCV000310736
dbSNP Id:
rs372008962
gnomAD v2:
1-115249975-C-T
gnomAD v3:
1-114707354-C-T
gnomAD v4:
1-114707354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114707354C>T , CM000663.2:g.114707354C>T | GRCh38 |
| NC_000001.10:g.115249975C>T , CM000663.1:g.115249975C>T | GRCh37 |
| NC_000001.9:g.115051498C>T | NCBI36 |
| NG_007572.1:g.14541G>A , LRG_92:g.14541G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369535.5:c.*740G>A MANE Select | ENSP00000358548.4:n.*740G>A | |
| ENST00000369535.4:c.*740G>A | ENSP00000358548.4:n.*740G>A | |
| NM_002524.4:c.*740G>A | NP_002515.1:n.*740G>A | |
| NM_002524.5:c.*740G>A MANE Select | NP_002515.1:n.*740G>A |