Linked Data
ClinVar Variation Id:
855885
dbSNP Id:
rs199537652
ExAC:
2:234235804 C / A
gnomAD v2:
2-234235804-C-A
gnomAD v3:
2-233327158-C-A
gnomAD v4:
2-233327158-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233327158C>A , CM000664.2:g.233327158C>A | GRCh38 |
| NC_000002.11:g.234235804C>A , CM000664.1:g.234235804C>A | GRCh37 |
| NC_000002.10:g.233900543C>A | NCBI36 |
| NG_009116.1:g.24496C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.473C>A MANE Select | ENSP00000386444.1:p.Thr158Lys | |
| ENST00000409110.5:c.473C>A | ENSP00000386444.1:p.Thr158Lys | |
| ENST00000412969.6:n.413C>A | ||
| ENST00000447536.5:c.473C>A | ENSP00000408937.1:p.Thr158Lys | |
| ENST00000453143.5:c.*304C>A | ENSP00000404733.1:n.*304C>A | |
| ENST00000471884.5:n.644C>A | ||
| ENST00000474206.1:n.310C>A | ||
| ENST00000476500.5:n.514C>A | ||
| NM_000541.4:c.473C>A | NP_000532.2:p.Thr158Lys | |
| XM_011511589.1:c.473C>A | XP_011509891.1:p.Thr158Lys | |
| XM_011511590.1:c.473C>A | XP_011509892.1:p.Thr158Lys | |
| XM_011511591.1:c.473C>A | XP_011509893.1:p.Thr158Lys | |
| XM_011511592.1:c.317C>A | XP_011509894.1:p.Thr106Lys | |
| XM_011511593.1:c.173C>A | XP_011509895.1:p.Thr58Lys | |
| XM_011511594.1:c.101C>A | XP_011509896.1:p.Thr34Lys | |
| XM_011511595.1:c.473C>A | XP_011509897.1:p.Thr158Lys | |
| XM_011511596.1:c.71C>A | XP_011509898.1:p.Thr24Lys | |
| XM_011511597.1:c.71C>A | XP_011509899.1:p.Thr24Lys | |
| XR_922978.1:n.669C>A | ||
| XR_922979.1:n.669C>A | ||
| XR_922980.1:n.768C>A | ||
| XM_011511593.3:c.173C>A | XP_011509895.1:p.Thr58Lys | |
| XM_017004641.1:c.473C>A | XP_016860130.1:p.Thr158Lys | |
| XM_017004642.1:c.473C>A | XP_016860131.1:p.Thr158Lys | |
| XM_017004643.1:c.473C>A | XP_016860132.1:p.Thr158Lys | |
| XM_024453036.1:c.71C>A | XP_024308804.1:p.Thr24Lys | |
| XR_001738882.1:n.550C>A | ||
| XR_922980.2:n.768C>A | ||
| NM_000541.5:c.473C>A MANE Select | NP_000532.2:p.Thr158Lys |