Linked Data
ClinVar Variation Id:
225897
dbSNP Id:
rs875989806
gnomAD v2:
X-70343021-G-A
gnomAD v4:
X-71123171-G-A
PubMed:
PMID:27159028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71123171G>A , CM000685.2:g.71123171G>A | GRCh38 |
| NC_000023.10:g.70343021G>A , CM000685.1:g.70343021G>A | GRCh37 |
| NC_000023.9:g.70259746G>A | NCBI36 |
| NG_012808.1:g.9616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.1562G>A | ENSP00000333125.8:p.Arg521His | |
| ENST00000374102.6:c.1562G>A | ENSP00000363215.2:p.Arg521His | |
| ENST00000686548.1:c.*1458G>A | ENSP00000509582.1:n.*1458G>A | |
| ENST00000687382.1:c.1562G>A | ENSP00000510724.1:p.Arg521His | |
| ENST00000688663.1:c.1562G>A | ENSP00000509348.1:p.Arg521His | |
| ENST00000688718.1:n.2042G>A | ||
| ENST00000689008.1:c.*1458G>A | ENSP00000509134.1:n.*1458G>A | |
| ENST00000689768.1:n.172G>A | ||
| ENST00000690145.1:c.1562G>A | ENSP00000508818.1:p.Arg521His | |
| ENST00000690242.1:c.1562G>A | ENSP00000510090.1:p.Arg521His | |
| ENST00000690828.1:n.1718G>A | ||
| ENST00000691385.1:n.840G>A | ||
| ENST00000691468.1:c.1562G>A | ENSP00000509011.1:p.Arg521His | |
| ENST00000692304.1:c.1562G>A | ENSP00000508427.1:p.Arg521His | |
| ENST00000692864.1:c.*1458G>A | ENSP00000510321.1:n.*1458G>A | |
| ENST00000693324.1:c.1562G>A | ENSP00000508643.1:p.Arg521His | |
| ENST00000374080.8:c.1562G>A MANE Select | ENSP00000363193.3:p.Arg521His | |
| ENST00000333646.10:c.1103G>A | ENSP00000333125.7:p.Arg368His | |
| ENST00000374080.7:c.1562G>A | ENSP00000363193.3:p.Arg521His | |
| ENST00000374102.5:c.1562G>A | ENSP00000363215.1:p.Arg521His | |
| NM_005120.2:c.1562G>A | NP_005111.2:p.Arg521His | |
| XM_005262317.1:c.1562G>A | XP_005262374.1:p.Arg521His | |
| XM_005262319.1:c.1562G>A | XP_005262376.1:p.Arg521His | |
| NM_005120.3:c.1562G>A MANE Select | NP_005111.2:p.Arg521His |