Linked Data
ClinVar Variation Id:
193629
dbSNP Id:
rs112911055
ExAC:
5:13914698 G / A
gnomAD v2:
5-13914698-G-A
gnomAD v3:
5-13914589-G-A
gnomAD v4:
5-13914589-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13914589G>A , CM000667.2:g.13914589G>A | GRCh38 |
| NC_000005.9:g.13914698G>A , CM000667.1:g.13914698G>A | GRCh37 |
| NC_000005.8:g.13967698G>A | NCBI36 |
| NG_013081.1:g.34892C>T | |
| NG_013081.2:g.34892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.1307C>T | ||
| ENST00000682376.1:n.4919C>T | ||
| ENST00000683011.1:n.1190C>T | ||
| ENST00000683967.1:n.3055C>T | ||
| ENST00000684013.1:n.1350C>T | ||
| ENST00000684099.1:n.1346C>T | ||
| ENST00000265104.5:c.1251C>T MANE Select | ENSP00000265104.4:p.Thr417= | |
| ENST00000680213.1:c.1011C>T | ENSP00000506622.1:p.Thr337= | |
| ENST00000681290.1:c.1206C>T | ENSP00000505288.1:p.Thr402= | |
| ENST00000265104.4:c.1251C>T | ENSP00000265104.4:p.Thr417= | |
| ENST00000508040.1:n.1659C>T | ||
| NM_001369.2:c.1251C>T | NP_001360.1:p.Thr417= | |
| XM_005248262.2:c.1206C>T | XP_005248319.1:p.Thr402= | |
| XM_011513990.1:c.1251C>T | XP_011512292.1:p.Thr417= | |
| XR_925598.1:n.1458C>T | ||
| XM_005248262.3:c.1359C>T | XP_005248319.2:p.Thr453= | |
| XM_017009177.1:c.1359C>T | XP_016864666.1:p.Thr453= | |
| XM_017009178.1:c.264C>T | XP_016864667.1:p.Thr88= | |
| XM_017009179.2:c.264C>T | XP_016864668.1:p.Thr88= | |
| XM_017009180.1:c.1359C>T | XP_016864669.1:p.Thr453= | |
| XM_017009181.1:c.1359C>T | XP_016864670.1:p.Thr453= | |
| XM_017009182.1:c.1359C>T | XP_016864671.1:p.Thr453= | |
| XM_017009183.1:c.1359C>T | XP_016864672.1:p.Thr453= | |
| XM_017009184.1:c.1359C>T | XP_016864673.1:p.Thr453= | |
| XM_017009187.1:c.1359C>T | XP_016864676.1:p.Thr453= | |
| XM_024454388.1:c.264C>T | XP_024310156.1:p.Thr88= | |
| XM_024454389.1:c.-709C>T | XP_024310157.1:n.-709C>T | |
| XR_001742034.1:n.1376C>T | ||
| XR_001742035.1:n.1376C>T | ||
| NM_001369.3:c.1251C>T MANE Select | NP_001360.1:p.Thr417= |