Linked Data
ClinVar Variation Id:
163157
dbSNP Id:
rs1530498
ExAC:
5:13902220 T / C
gnomAD v2:
5-13902220-T-C
gnomAD v3:
5-13902111-T-C
gnomAD v4:
5-13902111-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13902111T>C , CM000667.2:g.13902111T>C | GRCh38 |
| NC_000005.9:g.13902220T>C , CM000667.1:g.13902220T>C | GRCh37 |
| NC_000005.8:g.13955220T>C | NCBI36 |
| NG_013081.1:g.47370A>G | |
| NG_013081.2:g.47370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.1672A>G MANE Select | ENSP00000265104.4:p.Thr558Ala | |
| ENST00000681290.1:c.1627A>G | ENSP00000505288.1:p.Thr543Ala | |
| ENST00000265104.4:c.1672A>G | ENSP00000265104.4:p.Thr558Ala | |
| NM_001369.2:c.1672A>G | NP_001360.1:p.Thr558Ala | |
| XM_005248262.2:c.1627A>G | XP_005248319.1:p.Thr543Ala | |
| XM_011513990.1:c.1672A>G | XP_011512292.1:p.Thr558Ala | |
| XR_925598.1:n.1879A>G | ||
| XM_005248262.3:c.1780A>G | XP_005248319.2:p.Thr594Ala | |
| XM_017009177.1:c.1780A>G | XP_016864666.1:p.Thr594Ala | |
| XM_017009178.1:c.685A>G | XP_016864667.1:p.Thr229Ala | |
| XM_017009179.2:c.685A>G | XP_016864668.1:p.Thr229Ala | |
| XM_017009180.1:c.1780A>G | XP_016864669.1:p.Thr594Ala | |
| XM_017009181.1:c.1780A>G | XP_016864670.1:p.Thr594Ala | |
| XM_017009182.1:c.1780A>G | XP_016864671.1:p.Thr594Ala | |
| XM_017009183.1:c.1780A>G | XP_016864672.1:p.Thr594Ala | |
| XM_017009184.1:c.1780A>G | XP_016864673.1:p.Thr594Ala | |
| XM_017009187.1:c.1780A>G | XP_016864676.1:p.Thr594Ala | |
| XM_024454388.1:c.685A>G | XP_024310156.1:p.Thr229Ala | |
| XM_024454389.1:c.274A>G | XP_024310157.1:p.Thr92Ala | |
| XR_001742034.1:n.1797A>G | ||
| XR_001742035.1:n.1797A>G | ||
| NM_001369.3:c.1672A>G MANE Select | NP_001360.1:p.Thr558Ala |