Linked Data
ClinVar Variation Id:
220045
dbSNP Id:
rs114220185
ExAC:
5:13931323 G / A
gnomAD v2:
5-13931323-G-A
gnomAD v3:
5-13931214-G-A
gnomAD v4:
5-13931214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13931214G>A , CM000667.2:g.13931214G>A | GRCh38 |
| NC_000005.9:g.13931323G>A , CM000667.1:g.13931323G>A | GRCh37 |
| NC_000005.8:g.13984323G>A | NCBI36 |
| NG_013081.1:g.18267C>T | |
| NG_013081.2:g.18267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.144C>T | ||
| ENST00000682376.1:n.132C>T | ||
| ENST00000682586.1:n.132C>T | ||
| ENST00000683011.1:n.122C>T | ||
| ENST00000683967.1:n.138C>T | ||
| ENST00000684013.1:n.138C>T | ||
| ENST00000684099.1:n.183C>T | ||
| ENST00000265104.5:c.88C>T MANE Select | ENSP00000265104.4:p.Arg30Trp | |
| ENST00000680213.1:c.-153C>T | ENSP00000506622.1:n.-153C>T | |
| ENST00000681290.1:c.43C>T | ENSP00000505288.1:p.Arg15Trp | |
| ENST00000265104.4:c.88C>T | ENSP00000265104.4:p.Arg30Trp | |
| ENST00000508040.1:n.447C>T | ||
| NM_001369.2:c.88C>T | NP_001360.1:p.Arg30Trp | |
| XM_005248262.2:c.43C>T | XP_005248319.1:p.Arg15Trp | |
| XM_011513990.1:c.88C>T | XP_011512292.1:p.Arg30Trp | |
| XR_925598.1:n.295C>T | ||
| XM_005248262.3:c.196C>T | XP_005248319.2:p.Arg66Trp | |
| XM_017009177.1:c.196C>T | XP_016864666.1:p.Arg66Trp | |
| XM_017009178.1:c.-949C>T | XP_016864667.1:n.-949C>T | |
| XM_017009180.1:c.196C>T | XP_016864669.1:p.Arg66Trp | |
| XM_017009181.1:c.196C>T | XP_016864670.1:p.Arg66Trp | |
| XM_017009182.1:c.196C>T | XP_016864671.1:p.Arg66Trp | |
| XM_017009183.1:c.196C>T | XP_016864672.1:p.Arg66Trp | |
| XM_017009184.1:c.196C>T | XP_016864673.1:p.Arg66Trp | |
| XM_017009187.1:c.196C>T | XP_016864676.1:p.Arg66Trp | |
| XM_024454388.1:c.-2819C>T | XP_024310156.1:n.-2819C>T | |
| XM_024454389.1:c.-1872C>T | XP_024310157.1:n.-1872C>T | |
| XR_001742034.1:n.213C>T | ||
| XR_001742035.1:n.213C>T | ||
| NM_001369.3:c.88C>T MANE Select | NP_001360.1:p.Arg30Trp |