Linked Data
dbSNP Id:
rs1205589862
gnomAD v2:
X-73641741-G-A
gnomAD v3:
X-74421906-G-A
gnomAD v4:
X-74421906-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421906G>A , CM000685.2:g.74421906G>A | GRCh38 |
| NC_000023.10:g.73641741G>A , CM000685.1:g.73641741G>A | GRCh37 |
| NC_000023.9:g.73558466G>A | NCBI36 |
| NG_011641.1:g.5657G>A | |
| NG_011641.2:g.5657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.269G>A MANE Select | ENSP00000465734.1:p.Arg90His | |
| ENST00000636771.1:c.15G>A | ||
| ENST00000587091.5:c.269G>A | ENSP00000465734.1:p.Arg90His | |
| NM_006517.4:c.269G>A | NP_006508.2:p.Arg90His | |
| XM_005262294.1:c.269G>A | XP_005262351.1:p.Arg90His | |
| XM_011531015.1:c.269G>A | XP_011529317.1:p.Arg90His | |
| NM_006517.5:c.269G>A MANE Select | NP_006508.2:p.Arg90His |