Linked Data
ClinVar Variation Id:
196970
dbSNP Id:
rs763588282
ExAC:
5:13830890 T / C
gnomAD v2:
5-13830890-T-C
gnomAD v3:
5-13830781-T-C
gnomAD v4:
5-13830781-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13830781T>C , CM000667.2:g.13830781T>C | GRCh38 |
| NC_000005.9:g.13830890T>C , CM000667.1:g.13830890T>C | GRCh37 |
| NC_000005.8:g.13883890T>C | NCBI36 |
| NG_013081.1:g.118700A>G | |
| NG_013081.2:g.118700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683090.1:n.808A>G | ||
| ENST00000265104.5:c.5883-6A>G MANE Select | ENSP00000265104.4:n.5883-6A>G | |
| ENST00000681290.1:c.5838-6A>G | ENSP00000505288.1:n.5838-6A>G | |
| ENST00000265104.4:c.5883-6A>G | ENSP00000265104.4:n.5883-6A>G | |
| NM_001369.2:c.5883-6A>G | NP_001360.1:n.5883-6A>G | |
| XM_005248262.2:c.5838-6A>G | XP_005248319.1:n.5838-6A>G | |
| XM_011513990.1:c.5883-6A>G | XP_011512292.1:n.5883-6A>G | |
| XR_925598.1:n.6090-6A>G | ||
| XM_005248262.3:c.5991-6A>G | XP_005248319.2:n.5991-6A>G | |
| XM_017009177.1:c.5991-6A>G | XP_016864666.1:n.5991-6A>G | |
| XM_017009178.1:c.4896-6A>G | XP_016864667.1:n.4896-6A>G | |
| XM_017009179.2:c.4896-6A>G | XP_016864668.1:n.4896-6A>G | |
| XM_017009180.1:c.5991-6A>G | XP_016864669.1:n.5991-6A>G | |
| XM_017009181.1:c.5991-6A>G | XP_016864670.1:n.5991-6A>G | |
| XM_017009182.1:c.5991-6A>G | XP_016864671.1:n.5991-6A>G | |
| XM_017009183.1:c.5991-6A>G | XP_016864672.1:n.5991-6A>G | |
| XM_017009184.1:c.5991-6A>G | XP_016864673.1:n.5991-6A>G | |
| XM_017009185.1:c.1080-6A>G | XP_016864674.1:n.1080-6A>G | |
| XM_017009186.1:c.633-6A>G | XP_016864675.1:n.633-6A>G | |
| XM_017009187.1:c.5991-6A>G | XP_016864676.1:n.5991-6A>G | |
| XM_017009188.1:c.-31-6A>G | XP_016864677.1:n.-31-6A>G | |
| XM_024454388.1:c.4896-6A>G | XP_024310156.1:n.4896-6A>G | |
| XM_024454389.1:c.4485-6A>G | XP_024310157.1:n.4485-6A>G | |
| XR_001742034.1:n.6008-6A>G | ||
| XR_001742035.1:n.6008-6A>G | ||
| NM_001369.3:c.5883-6A>G MANE Select | NP_001360.1:n.5883-6A>G |