Linked Data
dbSNP Id:
rs781652566
ExAC:
20:42089372 G / A
gnomAD v2:
20-42089372-G-A
gnomAD v4:
20-43460732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43460732G>A , CM000682.2:g.43460732G>A | GRCh38 |
| NC_000020.10:g.42089372G>A , CM000682.1:g.42089372G>A | GRCh37 |
| NC_000020.9:g.41522786G>A | NCBI36 |
| NG_029906.1:g.7869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244020.5:c.704G>A MANE Select | ENSP00000244020.3:p.Arg235His | |
| ENST00000657241.1:c.654+134G>A | ||
| ENST00000662078.1:c.674+134G>A | ENSP00000499666.1:n.674+134G>A | |
| ENST00000668808.1:c.704G>A | ENSP00000499517.1:p.Arg235His | |
| ENST00000670741.1:c.674+134G>A | ENSP00000499492.1:n.674+134G>A | |
| ENST00000671022.1:n.794G>A | ||
| ENST00000244020.4:c.704G>A | ENSP00000244020.3:p.Arg235His | |
| ENST00000483871.6:c.*564G>A | ENSP00000433544.1:n.*564G>A | |
| NM_006275.5:c.704G>A | NP_006266.2:p.Arg235His | |
| NR_034009.1:n.1142G>A | ||
| XR_936608.1:n.1463G>A | ||
| XR_936608.2:n.1463G>A | ||
| NM_006275.6:c.704G>A MANE Select | NP_006266.2:p.Arg235His | |
| NR_034009.2:n.1110G>A |