Linked Data
ClinVar Variation Id:
2174442
ClinVar RCV Id:
RCV002598901
dbSNP Id:
rs367687282
gnomAD v2:
5-1411346-C-A
gnomAD v4:
5-1411231-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1411231C>A , CM000667.2:g.1411231C>A | GRCh38 |
| NC_000005.9:g.1411346C>A , CM000667.1:g.1411346C>A | GRCh37 |
| NC_000005.8:g.1464346C>A | NCBI36 |
| NG_015885.1:g.39198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1269+12G>T MANE Select | ENSP00000270349.9:n.1269+12G>T | |
| ENST00000270349.11:c.1269+12G>T | ENSP00000270349.9:n.1269+12G>T | |
| NM_001044.4:c.1269+12G>T | NP_001035.1:n.1269+12G>T | |
| NM_001044.5:c.1269+12G>T MANE Select | NP_001035.1:n.1269+12G>T |