Linked Data
dbSNP Id:
rs8178992
ExAC:
10:50863147 T / A
gnomAD v2:
10-50863147-T-A
gnomAD v4:
10-49655101-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49655101T>A , CM000672.2:g.49655101T>A | GRCh38 |
| NC_000010.10:g.50863147T>A , CM000672.1:g.50863147T>A | GRCh37 |
| NC_000010.9:g.50533153T>A | NCBI36 |
| NG_011797.1:g.51007T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.1641T>A MANE Select | ENSP00000337103.2:p.His547Gln | |
| ENST00000638282.1:c.*478T>A | ENSP00000492646.1:n.*478T>A | |
| ENST00000638683.1:n.278T>A | ||
| ENST00000640822.1:c.504T>A | ENSP00000491328.1:p.His168Gln | |
| ENST00000337653.6:c.1641T>A | ENSP00000337103.2:p.His547Gln | |
| ENST00000339797.5:c.1287T>A | ENSP00000343486.1:p.His429Gln | |
| ENST00000351556.7:c.1287T>A | ENSP00000345878.3:p.His429Gln | |
| ENST00000395559.6:c.1287T>A | ENSP00000378926.2:p.His429Gln | |
| ENST00000395562.2:c.1395T>A | ENSP00000378929.2:p.His465Gln | |
| ENST00000466590.6:c.*1372T>A | ENSP00000473443.1:n.*1372T>A | |
| NM_001142929.1:c.1287T>A | NP_001136401.1:p.His429Gln | |
| NM_001142933.1:c.1395T>A | NP_001136405.1:p.His465Gln | |
| NM_001142934.1:c.1287T>A | NP_001136406.1:p.His429Gln | |
| NM_020549.4:c.1641T>A | NP_065574.3:p.His547Gln | |
| NM_020984.3:c.1287T>A | NP_066264.3:p.His429Gln | |
| NM_020985.3:c.1287T>A | NP_066265.3:p.His429Gln | |
| NM_020986.3:c.1287T>A | NP_066266.3:p.His429Gln | |
| NM_001142929.2:c.1287T>A | NP_001136401.2:p.His429Gln | |
| NM_001142933.2:c.1395T>A | NP_001136405.2:p.His465Gln | |
| NM_001142934.2:c.1287T>A | NP_001136406.2:p.His429Gln | |
| NM_020549.5:c.1641T>A MANE Select | NP_065574.4:p.His547Gln | |
| NM_020984.4:c.1287T>A | NP_066264.4:p.His429Gln | |
| NM_020985.4:c.1287T>A | NP_066265.4:p.His429Gln | |
| NM_020986.4:c.1287T>A | NP_066266.4:p.His429Gln |