Identifiers and link-outs to other resources
ClinVar Variation Id:
371778
dbSNP Id:
rs1057517528
gnomAD:
11:61160701 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 | |
|---|---|---|
| NM_001173990.2:c.35-2A>G VV | NP_001167461.1:p.= | |
| NM_001173991.2:c.35-2A>G VV | NP_001167462.1:p.= | |
| NM_016499.5:c.-149-2A>G VV | NP_057583.2:p.= | |
| XM_005274039.3:c.-149-2A>G | XP_005274096.1:p.= | |
| NM_001330285.1:c.-149-2A>G VV | NP_001317214.1:p.= | |
| XM_005274039.4:c.-149-2A>G | ||
| ENST00000334888.9:c.35-2A>G | ENSP00000334844.5:p.= | |
| ENST00000398979.7:c.-149-2A>G | ENSP00000381950.3:p.= | |
| ENST00000515837.6:c.35-2A>G | ENSP00000440638.1:p.= | |
| ENST00000541473.1:n.49-2A>G | ||
| ENST00000544795.5:n.51-2A>G |