Linked Data
ClinVar Variation Id:
854641
dbSNP Id:
rs759337909
ExAC:
3:122003014 T / C
gnomAD v2:
3-122003014-T-C
gnomAD v3:
3-122284167-T-C
gnomAD v4:
3-122284167-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284167T>C , CM000665.2:g.122284167T>C | GRCh38 |
| NC_000003.11:g.122003014T>C , CM000665.1:g.122003014T>C | GRCh37 |
| NC_000003.10:g.123485704T>C | NCBI36 |
| NG_009058.1:g.105485T>C | |
| NG_009058.2:g.105500T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.1982T>C | ENSP00000418685.2:p.Ile661Thr | |
| ENST00000498619.4:c.2243T>C | ENSP00000420194.1:p.Ile748Thr | |
| ENST00000638421.1:c.2213T>C | ENSP00000492190.1:p.Ile738Thr | |
| ENST00000639785.2:c.2213T>C MANE Select | ENSP00000491584.2:p.Ile738Thr | |
| ENST00000490131.5:c.2213T>C | ENSP00000418685.1:p.Ile738Thr | |
| ENST00000498619.2:c.2243T>C | ENSP00000420194.1:p.Ile748Thr | |
| NM_000388.3:c.2213T>C | NP_000379.2:p.Ile738Thr | |
| NM_001178065.1:c.2243T>C | NP_001171536.1:p.Ile748Thr | |
| XM_005247836.2:c.2213T>C | XP_005247893.1:p.Ile738Thr | |
| XM_005247837.2:c.1730T>C | XP_005247894.1:p.Ile577Thr | |
| XM_006713789.2:c.2213T>C | XP_006713852.1:p.Ile738Thr | |
| XM_011513237.1:c.2213T>C | XP_011511539.1:p.Ile738Thr | |
| XM_011513238.1:c.2213T>C | XP_011511540.1:p.Ile738Thr | |
| XM_011513239.1:c.1625T>C | XP_011511541.1:p.Ile542Thr | |
| XM_006713789.3:c.2213T>C | XP_006713852.1:p.Ile738Thr | |
| XM_017007324.1:c.2213T>C | XP_016862813.1:p.Ile738Thr | |
| XM_017007325.1:c.2213T>C | XP_016862814.1:p.Ile738Thr | |
| NM_000388.4:c.2213T>C MANE Select | NP_000379.3:p.Ile738Thr | |
| NM_001178065.2:c.2243T>C | NP_001171536.2:p.Ile748Thr |