Linked Data
ClinVar Variation Id:
214545
dbSNP Id:
rs74755920
ExAC:
5:140076750 T / C
gnomAD v2:
5-140076750-T-C
gnomAD v3:
5-140697165-T-C
gnomAD v4:
5-140697165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140697165T>C , CM000667.2:g.140697165T>C | GRCh38 |
| NC_000005.9:g.140076750T>C , CM000667.1:g.140076750T>C | GRCh37 |
| NC_000005.8:g.140056934T>C | NCBI36 |
| NG_021415.1:g.10733T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.956T>C MANE Select | ENSP00000230771.3:p.Ile319Thr | |
| ENST00000503873.6:c.635T>C | ENSP00000424516.2:p.Ile212Thr | |
| ENST00000509299.6:c.746T>C | ENSP00000425695.2:p.Ile249Thr | |
| ENST00000520095.6:c.*534T>C | ENSP00000429220.1:n.*534T>C | |
| ENST00000642452.1:c.996T>C | ||
| ENST00000642752.1:c.857T>C | ENSP00000493630.1:p.Ile286Thr | |
| ENST00000642970.1:c.746T>C | ENSP00000496011.1:p.Ile249Thr | |
| ENST00000643996.1:c.746T>C | ENSP00000495350.1:p.Ile249Thr | |
| ENST00000645065.1:c.974T>C | ENSP00000493571.1:p.Ile325Thr | |
| ENST00000645749.1:c.956T>C | ENSP00000494296.1:p.Ile319Thr | |
| ENST00000646468.1:c.974T>C | ENSP00000494965.1:p.Ile325Thr | |
| ENST00000647484.1:c.*337T>C | ENSP00000494140.1:n.*337T>C | |
| ENST00000230771.7:c.956T>C | ENSP00000230771.3:p.Ile319Thr | |
| ENST00000448069.2:c.440T>C | ENSP00000407105.2:p.Ile147Thr | |
| ENST00000508522.5:c.881T>C | ENSP00000423616.1:p.Ile294Thr | |
| NM_001278731.1:c.881T>C | NP_001265660.1:p.Ile294Thr | |
| NM_001278732.1:c.524T>C | NP_001265661.1:p.Ile175Thr | |
| NM_012208.3:c.956T>C | NP_036340.1:p.Ile319Thr | |
| XM_011537619.1:c.974T>C | XP_011535921.1:p.Ile325Thr | |
| XM_011537620.1:c.875T>C | XP_011535922.1:p.Ile292Thr | |
| NM_001363535.1:c.974T>C | NP_001350464.1:p.Ile325Thr | |
| NM_001363536.1:c.746T>C | NP_001350465.1:p.Ile249Thr | |
| XM_017009288.1:c.746T>C | XP_016864777.1:p.Ile249Thr | |
| XM_017009289.1:c.746T>C | XP_016864778.1:p.Ile249Thr | |
| XM_017009290.2:c.296T>C | XP_016864779.1:p.Ile99Thr | |
| XM_017009291.1:c.296T>C | XP_016864780.1:p.Ile99Thr | |
| XM_017009292.1:c.296T>C | XP_016864781.1:p.Ile99Thr | |
| NM_012208.4:c.956T>C MANE Select | NP_036340.1:p.Ile319Thr | |
| NM_001278731.2:c.881T>C | NP_001265660.1:p.Ile294Thr | |
| NM_001278732.2:c.524T>C | NP_001265661.1:p.Ile175Thr | |
| NM_001363535.2:c.974T>C | NP_001350464.1:p.Ile325Thr | |
| NM_001363536.2:c.746T>C | NP_001350465.1:p.Ile249Thr |