Linked Data
ClinVar Variation Id:
10481
ClinVar RCV Id:
RCV000011227
dbSNP Id:
rs137852309
PubMed:
PMID:9488633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55013516G>C , CM000685.2:g.55013516G>C | GRCh38 |
| NC_000023.10:g.55039949G>C , CM000685.1:g.55039949G>C | GRCh37 |
| NC_000023.9:g.55056674G>C | NCBI36 |
| NG_008983.1:g.22549C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650242.1:c.1570C>G MANE Select | ENSP00000497236.1:p.His524Asp | |
| ENST00000330807.9:c.1570C>G | ENSP00000332369.5:p.His524Asp | |
| ENST00000335854.8:c.1459C>G | ENSP00000337131.4:p.His487Asp | |
| ENST00000396198.7:c.1531C>G | ENSP00000379501.3:p.His511Asp | |
| ENST00000498636.1:n.728+1231C>G | ||
| NM_000032.4:c.1570C>G | NP_000023.2:p.His524Asp | |
| NM_001037967.3:c.1459C>G | NP_001033056.1:p.His487Asp | |
| NM_001037968.3:c.1531C>G | NP_001033057.1:p.His511Asp | |
| XM_005261995.2:c.1642C>G | XP_005262052.1:p.His548Asp | |
| XM_011530771.1:c.709C>G | XP_011529073.1:p.His237Asp | |
| NM_000032.5:c.1570C>G MANE Select | NP_000023.2:p.His524Asp | |
| NM_001037967.4:c.1459C>G | NP_001033056.1:p.His487Asp | |
| NM_001037968.4:c.1531C>G | NP_001033057.1:p.His511Asp |