Linked Data
ClinVar Variation Id:
351080
dbSNP Id:
rs368456533
ExAC:
5:13830749 A / G
gnomAD v2:
5-13830749-A-G
gnomAD v3:
5-13830640-A-G
gnomAD v4:
5-13830640-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13830640A>G , CM000667.2:g.13830640A>G | GRCh38 |
| NC_000005.9:g.13830749A>G , CM000667.1:g.13830749A>G | GRCh37 |
| NC_000005.8:g.13883749A>G | NCBI36 |
| NG_013081.1:g.118841T>C | |
| NG_013081.2:g.118841T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683090.1:n.949T>C | ||
| ENST00000265104.5:c.6018T>C MANE Select | ENSP00000265104.4:p.Cys2006= | |
| ENST00000681290.1:c.5973T>C | ENSP00000505288.1:p.Cys1991= | |
| ENST00000265104.4:c.6018T>C | ENSP00000265104.4:p.Cys2006= | |
| NM_001369.2:c.6018T>C | NP_001360.1:p.Cys2006= | |
| XM_005248262.2:c.5973T>C | XP_005248319.1:p.Cys1991= | |
| XM_011513990.1:c.6018T>C | XP_011512292.1:p.Cys2006= | |
| XR_925598.1:n.6225T>C | ||
| XM_005248262.3:c.6126T>C | XP_005248319.2:p.Cys2042= | |
| XM_017009177.1:c.6126T>C | XP_016864666.1:p.Cys2042= | |
| XM_017009178.1:c.5031T>C | XP_016864667.1:p.Cys1677= | |
| XM_017009179.2:c.5031T>C | XP_016864668.1:p.Cys1677= | |
| XM_017009180.1:c.6126T>C | XP_016864669.1:p.Cys2042= | |
| XM_017009181.1:c.6126T>C | XP_016864670.1:p.Cys2042= | |
| XM_017009182.1:c.6126T>C | XP_016864671.1:p.Cys2042= | |
| XM_017009183.1:c.6126T>C | XP_016864672.1:p.Cys2042= | |
| XM_017009184.1:c.6126T>C | XP_016864673.1:p.Cys2042= | |
| XM_017009185.1:c.1215T>C | XP_016864674.1:p.Cys405= | |
| XM_017009186.1:c.768T>C | XP_016864675.1:p.Cys256= | |
| XM_017009187.1:c.6126T>C | XP_016864676.1:p.Cys2042= | |
| XM_017009188.1:c.105T>C | XP_016864677.1:p.Cys35= | |
| XM_024454388.1:c.5031T>C | XP_024310156.1:p.Cys1677= | |
| XM_024454389.1:c.4620T>C | XP_024310157.1:p.Cys1540= | |
| XR_001742034.1:n.6143T>C | ||
| XR_001742035.1:n.6143T>C | ||
| NM_001369.3:c.6018T>C MANE Select | NP_001360.1:p.Cys2006= |