Linked Data
ClinVar Variation Id:
454800
dbSNP Id:
rs143074036
ExAC:
5:13817675 T / C
gnomAD v2:
5-13817675-T-C
gnomAD v3:
5-13817566-T-C
gnomAD v4:
5-13817566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13817566T>C , CM000667.2:g.13817566T>C | GRCh38 |
| NC_000005.9:g.13817675T>C , CM000667.1:g.13817675T>C | GRCh37 |
| NC_000005.8:g.13870675T>C | NCBI36 |
| NG_013081.1:g.131915A>G | |
| NG_013081.2:g.131915A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.6970A>G MANE Select | ENSP00000265104.4:p.Thr2324Ala | |
| ENST00000681290.1:c.6925A>G | ENSP00000505288.1:p.Thr2309Ala | |
| ENST00000265104.4:c.6970A>G | ENSP00000265104.4:p.Thr2324Ala | |
| NM_001369.2:c.6970A>G | NP_001360.1:p.Thr2324Ala | |
| XM_005248262.2:c.6925A>G | XP_005248319.1:p.Thr2309Ala | |
| XM_011513990.1:c.6970A>G | XP_011512292.1:p.Thr2324Ala | |
| XR_925598.1:n.7177A>G | ||
| XM_005248262.3:c.7078A>G | XP_005248319.2:p.Thr2360Ala | |
| XM_017009177.1:c.7078A>G | XP_016864666.1:p.Thr2360Ala | |
| XM_017009178.1:c.5983A>G | XP_016864667.1:p.Thr1995Ala | |
| XM_017009179.2:c.5983A>G | XP_016864668.1:p.Thr1995Ala | |
| XM_017009180.1:c.7078A>G | XP_016864669.1:p.Thr2360Ala | |
| XM_017009181.1:c.7078A>G | XP_016864670.1:p.Thr2360Ala | |
| XM_017009182.1:c.7078A>G | XP_016864671.1:p.Thr2360Ala | |
| XM_017009183.1:c.7078A>G | XP_016864672.1:p.Thr2360Ala | |
| XM_017009184.1:c.7078A>G | XP_016864673.1:p.Thr2360Ala | |
| XM_017009185.1:c.2167A>G | XP_016864674.1:p.Thr723Ala | |
| XM_017009186.1:c.1720A>G | XP_016864675.1:p.Thr574Ala | |
| XM_017009187.1:c.7078A>G | XP_016864676.1:p.Thr2360Ala | |
| XM_017009188.1:c.1057A>G | XP_016864677.1:p.Thr353Ala | |
| XM_024454388.1:c.5983A>G | XP_024310156.1:p.Thr1995Ala | |
| XM_024454389.1:c.5572A>G | XP_024310157.1:p.Thr1858Ala | |
| XR_001742034.1:n.7095A>G | ||
| XR_001742035.1:n.7095A>G | ||
| NM_001369.3:c.6970A>G MANE Select | NP_001360.1:p.Thr2324Ala |