Linked Data
ClinVar Variation Id:
541623
ClinVar RCV Id:
RCV000651930
dbSNP Id:
rs1295207359
gnomAD v3:
3-53184872-A-G
gnomAD v4:
3-53184872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53184872A>G , CM000665.2:g.53184872A>G | GRCh38 |
| NC_000003.11:g.53218888A>G , CM000665.1:g.53218888A>G | GRCh37 |
| NC_000003.10:g.53193928A>G | NCBI36 |
| NG_033864.1:g.28666A>G | |
| NG_033864.2:g.33864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697588.1:c.788-2A>G | ENSP00000513355.1:n.788-2A>G | |
| ENST00000697589.1:n.792-2A>G | ||
| ENST00000330452.8:c.788-2A>G MANE Select | ENSP00000331602.3:n.788-2A>G | |
| ENST00000650739.1:c.788-2A>G | ENSP00000498623.1:n.788-2A>G | |
| ENST00000650940.1:c.788-2A>G | ENSP00000499184.1:n.788-2A>G | |
| ENST00000651505.1:c.529-2A>G | ||
| ENST00000652449.1:c.788-2A>G | ENSP00000498400.1:n.788-2A>G | |
| ENST00000654719.1:c.788-2A>G | ENSP00000499558.1:n.788-2A>G | |
| ENST00000330452.7:c.788-2A>G | ENSP00000331602.3:n.788-2A>G | |
| ENST00000394729.6:c.788-2A>G | ENSP00000378217.2:n.788-2A>G | |
| ENST00000464818.1:c.572-2A>G | ENSP00000419629.1:n.572-2A>G | |
| NM_001316327.1:c.788-2A>G | NP_001303256.1:n.788-2A>G | |
| NM_006254.3:c.788-2A>G | NP_006245.2:n.788-2A>G | |
| NM_212539.1:c.788-2A>G | NP_997704.1:n.788-2A>G | |
| XM_006713257.2:c.836-2A>G | XP_006713320.1:n.836-2A>G | |
| XM_006713259.2:c.788-2A>G | XP_006713322.1:n.788-2A>G | |
| XR_940474.1:n.807-2A>G | ||
| NM_001354676.1:c.845-2A>G | NP_001341605.1:n.845-2A>G | |
| NM_001354678.1:c.836-2A>G | NP_001341607.1:n.836-2A>G | |
| NM_001354679.1:c.788-2A>G | NP_001341608.1:n.788-2A>G | |
| NM_001354680.1:c.788-2A>G | NP_001341609.1:n.788-2A>G | |
| XR_002959550.1:n.860-2A>G | ||
| NM_006254.4:c.788-2A>G MANE Select | NP_006245.2:n.788-2A>G | |
| NM_001316327.2:c.788-2A>G | NP_001303256.1:n.788-2A>G | |
| NM_001354676.2:c.845-2A>G | NP_001341605.1:n.845-2A>G | |
| NM_001354678.2:c.836-2A>G | NP_001341607.1:n.836-2A>G | |
| NM_001354679.2:c.788-2A>G | NP_001341608.1:n.788-2A>G | |
| NM_001354680.2:c.788-2A>G | NP_001341609.1:n.788-2A>G | |
| NM_212539.2:c.788-2A>G | NP_997704.1:n.788-2A>G |