Linked Data
ClinVar Variation Id:
525
ClinVar RCV Id:
RCV000000554
dbSNP Id:
rs137852827
PubMed:
PMID:9737771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344385C>G , CM000667.2:g.128344385C>G | GRCh38 |
| NC_000005.9:g.127680077C>G , CM000667.1:g.127680077C>G | GRCh37 |
| NC_000005.8:g.127707976C>G | NCBI36 |
| NG_008750.1:g.198659G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262464.9:c.3343G>C MANE Select | ENSP00000262464.4:p.Asp1115His | |
| ENST00000262464.8:c.3343G>C | ENSP00000262464.4:p.Asp1115His | |
| ENST00000508053.5:c.3343G>C | ENSP00000424571.1:p.Asp1115His | |
| ENST00000508989.5:c.3244G>C | ENSP00000425596.1:p.Asp1082His | |
| ENST00000619499.4:c.3340G>C | ENSP00000482132.1:p.Asp1114His | |
| NM_001999.3:c.3343G>C | NP_001990.2:p.Asp1115His | |
| XM_017009228.2:c.3190G>C | XP_016864717.1:p.Asp1064His | |
| NM_001999.4:c.3343G>C MANE Select | NP_001990.2:p.Asp1115His |