Linked Data
ClinVar Variation Id:
310349
ClinVar RCV Id:
RCV000298037
dbSNP Id:
rs567541896
gnomAD v2:
12-69747520-G-A
gnomAD v3:
12-69353740-G-A
gnomAD v4:
12-69353740-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353740G>A , CM000674.2:g.69353740G>A | GRCh38 |
| NC_000012.11:g.69747520G>A , CM000674.1:g.69747520G>A | GRCh37 |
| NC_000012.10:g.68033787G>A | NCBI36 |
| NG_008195.1:g.10387G>A , LRG_768:g.10387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*521G>A MANE Select | ENSP00000261267.2:n.*521G>A | |
| ENST00000261267.6:c.*521G>A | ENSP00000261267.2:n.*521G>A | |
| NM_000239.2:c.*521G>A , LRG_768t1:c.*521G>A | NP_000230.1:n.*521G>A | |
| NM_000239.3:c.*521G>A MANE Select | NP_000230.1:n.*521G>A |