Linked Data
ClinVar Variation Id:
312724
ClinVar RCV Id:
RCV000291266
dbSNP Id:
rs17881206
gnomAD v2:
14-20937588-G-A
gnomAD v3:
14-20469429-G-A
gnomAD v4:
14-20469429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20469429G>A , CM000676.2:g.20469429G>A | GRCh38 |
| NC_000014.8:g.20937588G>A , CM000676.1:g.20937588G>A | GRCh37 |
| NC_000014.7:g.20007428G>A | NCBI36 |
| NG_009631.1:g.5047G>A , LRG_91:g.5047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556293.6:n.24G>A | ||
| ENST00000557229.6:n.24G>A | ||
| ENST00000697613.1:c.-96G>A | ENSP00000513359.1:n.-96G>A | |
| ENST00000361505.10:c.-96G>A MANE Select | ENSP00000354532.6:n.-96G>A | |
| ENST00000361505.9:c.-96G>A | ENSP00000354532.5:n.-96G>A | |
| ENST00000553418.5:c.-96G>A | ENSP00000450663.1:n.-96G>A | |
| ENST00000554056.5:n.16G>A | ||
| ENST00000556293.5:n.24G>A | ||
| ENST00000557229.5:n.24G>A | ||
| NM_000270.3:c.-96G>A , LRG_91t1:c.-96G>A | NP_000261.2:n.-96G>A | |
| NM_000270.4:c.-96G>A MANE Select | NP_000261.2:n.-96G>A |