Linked Data
ClinVar Variation Id:
17902
ClinVar RCV Id:
RCV000019491
dbSNP Id:
rs121918381
ExAC:
11:116703580 A / G
gnomAD v2:
11-116703580-A-G
gnomAD v3:
11-116832864-A-G
gnomAD v4:
11-116832864-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832864A>G , CM000673.2:g.116832864A>G | GRCh38 |
| NC_000011.9:g.116703580A>G , CM000673.1:g.116703580A>G | GRCh37 |
| NC_000011.8:g.116208790A>G | NCBI36 |
| NG_008949.1:g.7957A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.280A>G MANE Select | ENSP00000227667.2:p.Thr94Ala | |
| ENST00000227667.7:c.280A>G | ENSP00000227667.2:p.Thr94Ala | |
| ENST00000375345.3:c.334A>G | ENSP00000364494.1:p.Thr112Ala | |
| ENST00000630701.1:c.334A>G | ENSP00000486182.1:p.Thr112Ala | |
| NM_000040.1:c.280A>G | NP_000031.1:p.Thr94Ala | |
| NM_000040.2:c.280A>G | NP_000031.1:p.Thr94Ala | |
| NM_000040.3:c.280A>G MANE Select | NP_000031.1:p.Thr94Ala |