Linked Data
dbSNP Id:
rs752831290
gnomAD v2:
5-35857864-A-G
gnomAD v3:
5-35857762-A-G
gnomAD v4:
5-35857762-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35857762A>G , CM000667.2:g.35857762A>G | GRCh38 |
| NC_000005.9:g.35857864A>G , CM000667.1:g.35857864A>G | GRCh37 |
| NC_000005.8:g.35893621A>G | NCBI36 |
| NG_009567.1:g.5874A>G , LRG_74:g.5874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.82+703A>G MANE Select | ENSP00000306157.3:n.82+703A>G | |
| ENST00000303115.7:c.82+703A>G | ENSP00000306157.3:n.82+703A>G | |
| ENST00000506850.5:c.82+703A>G | ENSP00000421207.1:n.82+703A>G | |
| ENST00000508941.5:c.82+703A>G | ENSP00000426426.1:n.82+703A>G | |
| ENST00000511031.1:n.217-3090A>G | ||
| ENST00000511982.1:c.82+703A>G | ENSP00000425309.1:n.82+703A>G | |
| ENST00000514217.5:c.82+703A>G | ENSP00000427688.1:n.82+703A>G | |
| ENST00000515665.1:c.82+703A>G | ENSP00000425538.1:n.82+703A>G | |
| NM_002185.3:c.82+703A>G | NP_002176.2:n.82+703A>G | |
| NR_120485.1:n.185+703A>G | ||
| XM_005248299.2:c.82+703A>G | XP_005248356.1:n.82+703A>G | |
| XM_005248300.1:c.82+703A>G | XP_005248357.1:n.82+703A>G | |
| XM_011514037.1:c.82+703A>G | XP_011512339.1:n.82+703A>G | |
| NM_002185.4:c.82+703A>G | NP_002176.2:n.82+703A>G | |
| NR_120485.2:n.211+703A>G | ||
| XM_005248299.4:c.82+703A>G | XP_005248356.1:n.82+703A>G | |
| XR_001742635.1:n.1533+1105T>C | ||
| NM_002185.5:c.82+703A>G MANE Select | NP_002176.2:n.82+703A>G | |
| NR_120485.3:n.169+703A>G |