Linked Data
dbSNP Id:
rs781801740
ExAC:
X:50654025 A / G
gnomAD v2:
X-50654025-A-G
gnomAD v3:
X-50911025-A-G
gnomAD v4:
X-50911025-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911025A>G , CM000685.2:g.50911025A>G | GRCh38 |
| NC_000023.10:g.50654025A>G , CM000685.1:g.50654025A>G | GRCh37 |
| NC_000023.9:g.50670765A>G | NCBI36 |
| NG_012894.1:g.5242A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.242A>G MANE Select | ENSP00000252677.3:p.His81Arg | |
| ENST00000252677.3:c.242A>G | ENSP00000252677.3:p.His81Arg | |
| NM_005448.2:c.242A>G MANE Select | NP_005439.2:p.His81Arg |