Linked Data
ClinVar Variation Id:
2197352
ClinVar RCV Id:
RCV002651321
dbSNP Id:
rs781678211
ExAC:
5:13886081 T / A
gnomAD v2:
5-13886081-T-A
gnomAD v4:
5-13885972-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13885972T>A , CM000667.2:g.13885972T>A | GRCh38 |
| NC_000005.9:g.13886081T>A , CM000667.1:g.13886081T>A | GRCh37 |
| NC_000005.8:g.13939081T>A | NCBI36 |
| NG_013081.1:g.63509A>T | |
| NG_013081.2:g.63509A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2735A>T MANE Select | ENSP00000265104.4:p.Glu912Val | |
| ENST00000681290.1:c.2690A>T | ENSP00000505288.1:p.Glu897Val | |
| ENST00000265104.4:c.2735A>T | ENSP00000265104.4:p.Glu912Val | |
| NM_001369.2:c.2735A>T | NP_001360.1:p.Glu912Val | |
| XM_005248262.2:c.2690A>T | XP_005248319.1:p.Glu897Val | |
| XM_011513990.1:c.2735A>T | XP_011512292.1:p.Glu912Val | |
| XR_925598.1:n.2942A>T | ||
| XM_005248262.3:c.2843A>T | XP_005248319.2:p.Glu948Val | |
| XM_017009177.1:c.2843A>T | XP_016864666.1:p.Glu948Val | |
| XM_017009178.1:c.1748A>T | XP_016864667.1:p.Glu583Val | |
| XM_017009179.2:c.1748A>T | XP_016864668.1:p.Glu583Val | |
| XM_017009180.1:c.2843A>T | XP_016864669.1:p.Glu948Val | |
| XM_017009181.1:c.2843A>T | XP_016864670.1:p.Glu948Val | |
| XM_017009182.1:c.2843A>T | XP_016864671.1:p.Glu948Val | |
| XM_017009183.1:c.2843A>T | XP_016864672.1:p.Glu948Val | |
| XM_017009184.1:c.2843A>T | XP_016864673.1:p.Glu948Val | |
| XM_017009187.1:c.2843A>T | XP_016864676.1:p.Glu948Val | |
| XM_024454388.1:c.1748A>T | XP_024310156.1:p.Glu583Val | |
| XM_024454389.1:c.1337A>T | XP_024310157.1:p.Glu446Val | |
| XR_001742034.1:n.2860A>T | ||
| XR_001742035.1:n.2860A>T | ||
| NM_001369.3:c.2735A>T MANE Select | NP_001360.1:p.Glu912Val |