Linked Data
ClinVar Variation Id:
240995
dbSNP Id:
rs199649563
ExAC:
2:73677858 A / G
gnomAD v2:
2-73677858-A-G
gnomAD v3:
2-73450731-A-G
gnomAD v4:
2-73450731-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73450731A>G , CM000664.2:g.73450731A>G | GRCh38 |
| NC_000002.11:g.73677858A>G , CM000664.1:g.73677858A>G | GRCh37 |
| NC_000002.10:g.73531366A>G | NCBI36 |
| NG_011690.1:g.69979A>G , LRG_741:g.69979A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.3823A>G | ENSP00000507671.1:p.Thr1275Ala | |
| ENST00000682801.1:c.3823A>G | ENSP00000507862.1:p.Thr1275Ala | |
| ENST00000682859.1:c.3823A>G | ENSP00000508222.1:p.Thr1275Ala | |
| ENST00000683791.1:c.685+18440A>G | ||
| ENST00000684460.1:c.1275A>G | ||
| ENST00000684548.1:c.3823A>G | ENSP00000507421.1:p.Thr1275Ala | |
| ENST00000684656.1:c.1275A>G | ||
| ENST00000613296.6:c.4204A>G MANE Select | ENSP00000482968.1:p.Thr1402Ala | |
| ENST00000484298.5:c.4078A>G | ENSP00000478155.1:p.Thr1360Ala | |
| ENST00000613296.4:c.4204A>G | ENSP00000482968.1:p.Thr1402Ala | |
| ENST00000614410.4:c.4204A>G | ENSP00000479094.1:p.Thr1402Ala | |
| NM_015120.4:c.4207A>G , LRG_741t1:c.4207A>G | NP_055935.4:p.Thr1403Ala | |
| NM_001378454.1:c.4204A>G MANE Select | NP_001365383.1:p.Thr1402Ala |