Linked Data
dbSNP Id:
rs1130838
ExAC:
6:31237124 T / C
gnomAD v2:
6-31237124-T-C
gnomAD v3:
6-31269347-T-C
gnomAD v4:
6-31269347-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269347T>C , CM000668.2:g.31269347T>C | GRCh38 |
| NC_000006.11:g.31237124T>C , CM000668.1:g.31237124T>C | GRCh37 |
| NC_000006.10:g.31345103T>C | NCBI36 |
| NG_029422.2:g.7785A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1087A>G MANE Select | ENSP00000365402.5:p.Thr363Ala | |
| ENST00000376228.9:c.1087A>G | ENSP00000365402.5:p.Thr363Ala | |
| ENST00000376237.8:c.*674A>G | ENSP00000365412.4:n.*674A>G | |
| ENST00000383329.7:c.1105A>G | ENSP00000372819.3:p.Thr369Ala | |
| ENST00000466892.5:n.320A>G | ||
| ENST00000470363.5:n.845A>G | ||
| ENST00000487245.5:n.1446A>G | ||
| NM_002117.5:c.1087A>G | NP_002108.4:p.Thr363Ala | |
| NM_002117.6:c.1087A>G MANE Select | NP_002108.4:p.Thr363Ala |