Linked Data
ClinVar Variation Id:
407257
ClinVar RCV Id:
RCV000468468
dbSNP Id:
rs147441805
ExAC:
5:13928223 T / C
gnomAD v3:
5-13928114-T-C
gnomAD v4:
5-13928114-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13928114T>C , CM000667.2:g.13928114T>C | GRCh38 |
| NC_000005.9:g.13928223T>C , CM000667.1:g.13928223T>C | GRCh37 |
| NC_000005.8:g.13981223T>C | NCBI36 |
| NG_013081.1:g.21367A>G | |
| NG_013081.2:g.21367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.313A>G | ||
| ENST00000682376.1:n.301A>G | ||
| ENST00000682586.1:n.301A>G | ||
| ENST00000683011.1:n.291A>G | ||
| ENST00000683967.1:n.307A>G | ||
| ENST00000684013.1:n.307A>G | ||
| ENST00000684099.1:n.352A>G | ||
| ENST00000265104.5:c.257A>G MANE Select | ENSP00000265104.4:p.Asp86Gly | |
| ENST00000680213.1:c.17A>G | ENSP00000506622.1:p.Asp6Gly | |
| ENST00000681290.1:c.212A>G | ENSP00000505288.1:p.Asp71Gly | |
| ENST00000265104.4:c.257A>G | ENSP00000265104.4:p.Asp86Gly | |
| ENST00000508040.1:n.616A>G | ||
| NM_001369.2:c.257A>G | NP_001360.1:p.Asp86Gly | |
| XM_005248262.2:c.212A>G | XP_005248319.1:p.Asp71Gly | |
| XM_011513990.1:c.257A>G | XP_011512292.1:p.Asp86Gly | |
| XR_925598.1:n.464A>G | ||
| XM_005248262.3:c.365A>G | XP_005248319.2:p.Asp122Gly | |
| XM_017009177.1:c.365A>G | XP_016864666.1:p.Asp122Gly | |
| XM_017009178.1:c.-780A>G | XP_016864667.1:n.-780A>G | |
| XM_017009180.1:c.365A>G | XP_016864669.1:p.Asp122Gly | |
| XM_017009181.1:c.365A>G | XP_016864670.1:p.Asp122Gly | |
| XM_017009182.1:c.365A>G | XP_016864671.1:p.Asp122Gly | |
| XM_017009183.1:c.365A>G | XP_016864672.1:p.Asp122Gly | |
| XM_017009184.1:c.365A>G | XP_016864673.1:p.Asp122Gly | |
| XM_017009187.1:c.365A>G | XP_016864676.1:p.Asp122Gly | |
| XM_024454388.1:c.-2650A>G | XP_024310156.1:n.-2650A>G | |
| XM_024454389.1:c.-1703A>G | XP_024310157.1:n.-1703A>G | |
| XR_001742034.1:n.382A>G | ||
| XR_001742035.1:n.382A>G | ||
| NM_001369.3:c.257A>G MANE Select | NP_001360.1:p.Asp86Gly |