Linked Data
ClinVar Variation Id:
414348
dbSNP Id:
rs111912673
ExAC:
5:13793711 G / A
gnomAD v2:
5-13793711-G-A
gnomAD v3:
5-13793602-G-A
gnomAD v4:
5-13793602-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13793602G>A , CM000667.2:g.13793602G>A | GRCh38 |
| NC_000005.9:g.13793711G>A , CM000667.1:g.13793711G>A | GRCh37 |
| NC_000005.8:g.13846711G>A | NCBI36 |
| NG_013081.1:g.155879C>T | |
| NG_013081.2:g.155879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8137C>T MANE Select | ENSP00000265104.4:p.Arg2713Cys | |
| ENST00000681290.1:c.8092C>T | ENSP00000505288.1:p.Arg2698Cys | |
| ENST00000265104.4:c.8137C>T | ENSP00000265104.4:p.Arg2713Cys | |
| NM_001369.2:c.8137C>T | NP_001360.1:p.Arg2713Cys | |
| XM_005248262.2:c.8092C>T | XP_005248319.1:p.Arg2698Cys | |
| XM_011513990.1:c.8137C>T | XP_011512292.1:p.Arg2713Cys | |
| XR_925598.1:n.8344C>T | ||
| XM_005248262.3:c.8245C>T | XP_005248319.2:p.Arg2749Cys | |
| XM_017009177.1:c.8245C>T | XP_016864666.1:p.Arg2749Cys | |
| XM_017009178.1:c.7150C>T | XP_016864667.1:p.Arg2384Cys | |
| XM_017009179.2:c.7150C>T | XP_016864668.1:p.Arg2384Cys | |
| XM_017009180.1:c.8245C>T | XP_016864669.1:p.Arg2749Cys | |
| XM_017009181.1:c.8245C>T | XP_016864670.1:p.Arg2749Cys | |
| XM_017009182.1:c.8245C>T | XP_016864671.1:p.Arg2749Cys | |
| XM_017009183.1:c.8245C>T | XP_016864672.1:p.Arg2749Cys | |
| XM_017009184.1:c.8245C>T | XP_016864673.1:p.Arg2749Cys | |
| XM_017009185.1:c.3334C>T | XP_016864674.1:p.Arg1112Cys | |
| XM_017009186.1:c.2887C>T | XP_016864675.1:p.Arg963Cys | |
| XM_017009188.1:c.2224C>T | XP_016864677.1:p.Arg742Cys | |
| XM_024454388.1:c.7150C>T | XP_024310156.1:p.Arg2384Cys | |
| XM_024454389.1:c.6739C>T | XP_024310157.1:p.Arg2247Cys | |
| XR_001742034.1:n.8262C>T | ||
| XR_001742035.1:n.8262C>T | ||
| NM_001369.3:c.8137C>T MANE Select | NP_001360.1:p.Arg2713Cys |