Linked Data
ClinVar Variation Id:
1257538
ClinVar RCV Id:
RCV001668802
dbSNP Id:
rs2236568
gnomAD v2:
10-82035923-C-A
gnomAD v3:
10-80276167-C-A
gnomAD v4:
10-80276167-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80276167C>A , CM000672.2:g.80276167C>A | GRCh38 |
| NC_000010.10:g.82035923C>A , CM000672.1:g.82035923C>A | GRCh37 |
| NC_000010.9:g.82025903C>A | NCBI36 |
| NG_008083.1:g.18512G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.768+209G>T MANE Select | ENSP00000361287.3:n.768+209G>T | |
| ENST00000372213.7:c.768+209G>T | ENSP00000361287.3:n.768+209G>T | |
| NM_000429.2:c.768+209G>T | NP_000420.1:n.768+209G>T | |
| XM_005269842.3:c.768+209G>T | XP_005269899.1:n.768+209G>T | |
| XM_005269843.3:c.645+209G>T | XP_005269900.1:n.645+209G>T | |
| NM_000429.3:c.768+209G>T MANE Select | NP_000420.1:n.768+209G>T |