Linked Data
ClinVar Variation Id:
14472
ClinVar RCV Id:
RCV001799609
dbSNP Id:
rs7291467
gnomAD v2:
22-37972628-G-A
gnomAD v3:
22-37576621-G-A
gnomAD v4:
22-37576621-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37576621G>A , CM000684.2:g.37576621G>A | GRCh38 |
| NC_000022.10:g.37972628G>A , CM000684.1:g.37972628G>A | GRCh37 |
| NC_000022.9:g.36302574G>A | NCBI36 |
| NG_012096.1:g.8397C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215886.6:c.6+3279C>T MANE Select | ENSP00000215886.4:n.6+3279C>T | |
| ENST00000215886.5:c.6+3279C>T | ENSP00000215886.4:n.6+3279C>T | |
| ENST00000416480.1:c.6+3279C>T | ENSP00000407351.1:n.6+3279C>T | |
| NM_006498.2:c.6+3279C>T | NP_006489.1:n.6+3279C>T | |
| NM_006498.3:c.6+3279C>T MANE Select | NP_006489.1:n.6+3279C>T |