Linked Data
ClinVar Variation Id:
471165
ClinVar RCV Id:
RCV000560551
dbSNP Id:
rs576712624
ExAC:
2:167159716 A / G
gnomAD v2:
2-167159716-A-G
gnomAD v3:
2-166303206-A-G
gnomAD v4:
2-166303206-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166303206A>G , CM000664.2:g.166303206A>G | GRCh38 |
| NC_000002.11:g.167159716A>G , CM000664.1:g.167159716A>G | GRCh37 |
| NC_000002.10:g.166867962A>G | NCBI36 |
| NG_012798.1:g.77782T>C , LRG_369:g.77782T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.785T>C | ENSP00000304748.7:p.Ile262Thr | |
| ENST00000409435.6:c.785T>C | ENSP00000386330.2:p.Ile262Thr | |
| ENST00000452182.2:c.785T>C | ENSP00000393141.2:p.Ile262Thr | |
| ENST00000454569.6:c.785T>C | ENSP00000413212.2:p.Ile262Thr | |
| ENST00000472119.2:n.1140T>C | ||
| ENST00000642356.2:c.785T>C MANE Select | ENSP00000495601.1:p.Ile262Thr | |
| ENST00000644316.1:c.785T>C | ENSP00000493939.1:p.Ile262Thr | |
| ENST00000645815.1:n.156T>C | ||
| ENST00000645907.1:c.785T>C | ENSP00000495983.1:p.Ile262Thr | |
| ENST00000303354.10:c.785T>C | ENSP00000304748.7:p.Ile262Thr | |
| ENST00000409435.5:c.785T>C | ENSP00000386330.1:p.Ile262Thr | |
| ENST00000409672.5:c.785T>C | ENSP00000386306.1:p.Ile262Thr | |
| ENST00000452182.1:c.380T>C | ENSP00000393141.1:p.Ile127Thr | |
| ENST00000454569.5:c.380T>C | ENSP00000413212.1:p.Ile127Thr | |
| ENST00000472119.1:n.318T>C | ||
| NM_002977.3:c.785T>C , LRG_369t1:c.785T>C | NP_002968.1:p.Ile262Thr | |
| XM_005246757.1:c.785T>C | XP_005246814.1:p.Ile262Thr | |
| XM_011511616.1:c.785T>C | XP_011509918.1:p.Ile262Thr | |
| XM_011511617.1:c.785T>C | XP_011509919.1:p.Ile262Thr | |
| XM_011511618.1:c.785T>C | XP_011509920.1:p.Ile262Thr | |
| XM_011511619.1:c.785T>C | XP_011509921.1:p.Ile262Thr | |
| NM_001365536.1:c.785T>C MANE Select | NP_001352465.1:p.Ile262Thr | |
| XM_011511616.3:c.785T>C | XP_011509918.1:p.Ile262Thr | |
| XM_011511617.2:c.785T>C | XP_011509919.1:p.Ile262Thr | |
| XM_011511618.2:c.785T>C | XP_011509920.1:p.Ile262Thr | |
| XM_011511619.2:c.785T>C | XP_011509921.1:p.Ile262Thr | |
| XM_017004668.1:c.398T>C | XP_016860157.1:p.Ile133Thr | |
| XM_017004669.1:c.41T>C | XP_016860158.1:p.Ile14Thr | |
| XR_001738886.1:n.1099T>C |