Linked Data
ClinVar Variation Id:
371778
dbSNP Id:
rs1057517528
gnomAD v2:
11-61160701-A-G
gnomAD v3:
11-61393229-A-G
gnomAD v4:
11-61393229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393229A>G , CM000673.2:g.61393229A>G | GRCh38 |
| NC_000011.9:g.61160701A>G , CM000673.1:g.61160701A>G | GRCh37 |
| NC_000011.8:g.60917277A>G | NCBI36 |
| NG_032976.1:g.5870A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334888.10:c.35-2A>G | ENSP00000334844.5:n.35-2A>G | |
| ENST00000544795.6:n.312-2A>G | ||
| ENST00000684926.1:n.51-2A>G | ||
| ENST00000688959.1:c.-225-2A>G | ENSP00000509213.1:n.-225-2A>G | |
| ENST00000690736.1:c.35-2A>G | ENSP00000508542.1:n.35-2A>G | |
| ENST00000515837.7:c.35-2A>G MANE Select | ENSP00000440638.1:n.35-2A>G | |
| ENST00000334888.9:c.35-2A>G | ENSP00000334844.5:n.35-2A>G | |
| ENST00000398979.7:c.-149-2A>G | ENSP00000381950.3:n.-149-2A>G | |
| ENST00000515837.6:c.35-2A>G | ENSP00000440638.1:n.35-2A>G | |
| ENST00000541473.1:n.49-2A>G | ||
| ENST00000544795.5:n.51-2A>G | ||
| NM_001173990.2:c.35-2A>G | NP_001167461.1:n.35-2A>G | |
| NM_001173991.2:c.35-2A>G | NP_001167462.1:n.35-2A>G | |
| NM_016499.5:c.-149-2A>G | NP_057583.2:n.-149-2A>G | |
| XM_005274039.3:c.-149-2A>G | XP_005274096.1:n.-149-2A>G | |
| NM_001330285.1:c.-149-2A>G | NP_001317214.1:n.-149-2A>G | |
| XM_005274039.4:c.-149-2A>G | XP_005274096.1:n.-149-2A>G | |
| NM_001173990.3:c.35-2A>G MANE Select | NP_001167461.1:n.35-2A>G | |
| NM_001173991.3:c.35-2A>G | NP_001167462.1:n.35-2A>G | |
| NM_001330285.2:c.-149-2A>G | NP_001317214.1:n.-149-2A>G | |
| NM_016499.6:c.-149-2A>G | NP_057583.2:n.-149-2A>G |