Linked Data
ClinVar Variation Id:
304186
ClinVar RCV Id:
RCV000279933
dbSNP Id:
rs140060318
gnomAD v2:
11-22645523-C-A
gnomAD v3:
11-22623977-C-A
gnomAD v4:
11-22623977-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22623977C>A , CM000673.2:g.22623977C>A | GRCh38 |
| NC_000011.9:g.22645523C>A , CM000673.1:g.22645523C>A | GRCh37 |
| NC_000011.8:g.22602099C>A | NCBI36 |
| NG_007425.1:g.6865G>T , LRG_527:g.6865G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327470.6:c.*709G>T MANE Select | ENSP00000330875.3:n.*709G>T | |
| ENST00000327470.4:c.*709G>T | ENSP00000330875.3:n.*709G>T | |
| NM_022725.3:c.*709G>T , LRG_527t1:c.*709G>T | NP_073562.1:n.*709G>T | |
| NM_022725.4:c.*709G>T MANE Select | NP_073562.1:n.*709G>T |