Linked Data
ClinVar Variation Id:
167636
dbSNP Id:
rs375593027
ExAC:
2:234235799 C / T
gnomAD v2:
2-234235799-C-T
gnomAD v3:
2-233327153-C-T
gnomAD v4:
2-233327153-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233327153C>T , CM000664.2:g.233327153C>T | GRCh38 |
| NC_000002.11:g.234235799C>T , CM000664.1:g.234235799C>T | GRCh37 |
| NC_000002.10:g.233900538C>T | NCBI36 |
| NG_009116.1:g.24491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.468C>T MANE Select | ENSP00000386444.1:p.Phe156= | |
| ENST00000409110.5:c.468C>T | ENSP00000386444.1:p.Phe156= | |
| ENST00000412969.6:n.408C>T | ||
| ENST00000447536.5:c.468C>T | ENSP00000408937.1:p.Phe156= | |
| ENST00000453143.5:c.*299C>T | ENSP00000404733.1:n.*299C>T | |
| ENST00000471884.5:n.639C>T | ||
| ENST00000474206.1:n.305C>T | ||
| ENST00000476500.5:n.509C>T | ||
| NM_000541.4:c.468C>T | NP_000532.2:p.Phe156= | |
| XM_011511589.1:c.468C>T | XP_011509891.1:p.Phe156= | |
| XM_011511590.1:c.468C>T | XP_011509892.1:p.Phe156= | |
| XM_011511591.1:c.468C>T | XP_011509893.1:p.Phe156= | |
| XM_011511592.1:c.312C>T | XP_011509894.1:p.Phe104= | |
| XM_011511593.1:c.168C>T | XP_011509895.1:p.Phe56= | |
| XM_011511594.1:c.96C>T | XP_011509896.1:p.Phe32= | |
| XM_011511595.1:c.468C>T | XP_011509897.1:p.Phe156= | |
| XM_011511596.1:c.66C>T | XP_011509898.1:p.Phe22= | |
| XM_011511597.1:c.66C>T | XP_011509899.1:p.Phe22= | |
| XR_922978.1:n.664C>T | ||
| XR_922979.1:n.664C>T | ||
| XR_922980.1:n.763C>T | ||
| XM_011511593.3:c.168C>T | XP_011509895.1:p.Phe56= | |
| XM_017004641.1:c.468C>T | XP_016860130.1:p.Phe156= | |
| XM_017004642.1:c.468C>T | XP_016860131.1:p.Phe156= | |
| XM_017004643.1:c.468C>T | XP_016860132.1:p.Phe156= | |
| XM_024453036.1:c.66C>T | XP_024308804.1:p.Phe22= | |
| XR_001738882.1:n.545C>T | ||
| XR_922980.2:n.763C>T | ||
| NM_000541.5:c.468C>T MANE Select | NP_000532.2:p.Phe156= |