Linked Data
ClinVar Variation Id:
291967
ClinVar RCV Id:
RCV000345781
dbSNP Id:
rs14804
gnomAD v2:
1-115249843-G-A
gnomAD v3:
1-114707222-G-A
gnomAD v4:
1-114707222-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114707222G>A , CM000663.2:g.114707222G>A | GRCh38 |
| NC_000001.10:g.115249843G>A , CM000663.1:g.115249843G>A | GRCh37 |
| NC_000001.9:g.115051366G>A | NCBI36 |
| NG_007572.1:g.14673C>T , LRG_92:g.14673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*872C>T MANE Select | ENSP00000358548.4:n.*872C>T | |
| ENST00000369535.4:c.*872C>T | ENSP00000358548.4:n.*872C>T | |
| NM_002524.4:c.*872C>T | NP_002515.1:n.*872C>T | |
| NM_002524.5:c.*872C>T MANE Select | NP_002515.1:n.*872C>T |