Linked Data
dbSNP Id:
rs782583289
ExAC:
X:50653847 A / C
gnomAD v2:
X-50653847-A-C
gnomAD v3:
X-50910847-A-C
gnomAD v4:
X-50910847-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910847A>C , CM000685.2:g.50910847A>C | GRCh38 |
| NC_000023.10:g.50653847A>C , CM000685.1:g.50653847A>C | GRCh37 |
| NC_000023.9:g.50670587A>C | NCBI36 |
| NG_012894.1:g.5064A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.64A>C MANE Select | ENSP00000252677.3:p.Arg22= | |
| ENST00000252677.3:c.64A>C | ENSP00000252677.3:p.Arg22= | |
| NM_005448.2:c.64A>C MANE Select | NP_005439.2:p.Arg22= |