Linked Data
ClinVar Variation Id:
351220
dbSNP Id:
rs755082450
ExAC:
5:13922341 T / C
gnomAD v2:
5-13922341-T-C
gnomAD v3:
5-13922232-T-C
gnomAD v4:
5-13922232-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13922232T>C , CM000667.2:g.13922232T>C | GRCh38 |
| NC_000005.9:g.13922341T>C , CM000667.1:g.13922341T>C | GRCh37 |
| NC_000005.8:g.13975341T>C | NCBI36 |
| NG_013081.1:g.27249A>G | |
| NG_013081.2:g.27249A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.591A>G | ||
| ENST00000682376.1:n.579A>G | ||
| ENST00000682586.1:n.579A>G | ||
| ENST00000683011.1:n.474A>G | ||
| ENST00000683967.1:n.585A>G | ||
| ENST00000684013.1:n.585A>G | ||
| ENST00000684099.1:n.630A>G | ||
| ENST00000265104.5:c.535A>G MANE Select | ENSP00000265104.4:p.Thr179Ala | |
| ENST00000680213.1:c.295A>G | ENSP00000506622.1:p.Thr99Ala | |
| ENST00000681290.1:c.490A>G | ENSP00000505288.1:p.Thr164Ala | |
| ENST00000265104.4:c.535A>G | ENSP00000265104.4:p.Thr179Ala | |
| ENST00000508040.1:n.894A>G | ||
| NM_001369.2:c.535A>G | NP_001360.1:p.Thr179Ala | |
| XM_005248262.2:c.490A>G | XP_005248319.1:p.Thr164Ala | |
| XM_011513990.1:c.535A>G | XP_011512292.1:p.Thr179Ala | |
| XR_925598.1:n.742A>G | ||
| XM_005248262.3:c.643A>G | XP_005248319.2:p.Thr215Ala | |
| XM_017009177.1:c.643A>G | XP_016864666.1:p.Thr215Ala | |
| XM_017009178.1:c.-502A>G | XP_016864667.1:n.-502A>G | |
| XM_017009180.1:c.643A>G | XP_016864669.1:p.Thr215Ala | |
| XM_017009181.1:c.643A>G | XP_016864670.1:p.Thr215Ala | |
| XM_017009182.1:c.643A>G | XP_016864671.1:p.Thr215Ala | |
| XM_017009183.1:c.643A>G | XP_016864672.1:p.Thr215Ala | |
| XM_017009184.1:c.643A>G | XP_016864673.1:p.Thr215Ala | |
| XM_017009187.1:c.643A>G | XP_016864676.1:p.Thr215Ala | |
| XM_024454388.1:c.-2372A>G | XP_024310156.1:n.-2372A>G | |
| XM_024454389.1:c.-1425A>G | XP_024310157.1:n.-1425A>G | |
| XR_001742034.1:n.660A>G | ||
| XR_001742035.1:n.660A>G | ||
| NM_001369.3:c.535A>G MANE Select | NP_001360.1:p.Thr179Ala |