Linked Data
ClinVar Variation Id:
1976403
ClinVar RCV Id:
RCV002731393
dbSNP Id:
rs768923856
gnomAD v4:
11-65720164-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720164C>G , CM000673.2:g.65720164C>G | GRCh38 |
| NC_000011.9:g.65487635C>G , CM000673.1:g.65487635C>G | GRCh37 |
| NC_000011.8:g.65244211C>G | NCBI36 |
| NG_008976.2:g.5775G>C , LRG_280:g.5775G>C | |
| NG_033057.1:g.13163C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.349G>C MANE Select | ENSP00000308193.5:p.Asp117His | |
| ENST00000528220.2:n.578G>C | ||
| ENST00000531596.6:c.349G>C | ENSP00000435717.2:p.Asp117His | |
| ENST00000534482.6:c.349G>C | ENSP00000432081.2:p.Asp117His | |
| ENST00000642430.1:n.242G>C | ||
| ENST00000643214.1:n.423G>C | ||
| ENST00000644142.1:c.349G>C | ENSP00000493695.1:p.Asp117His | |
| ENST00000644198.1:n.246G>C | ||
| ENST00000646597.1:n.286G>C | ||
| ENST00000308418.8:c.349G>C | ENSP00000308193.4:p.Asp117His | |
| ENST00000527610.1:c.349G>C | ENSP00000432897.1:p.Asp117His | |
| ENST00000528220.1:c.100G>C | ENSP00000431555.1:p.Asp34His | |
| ENST00000530192.1:n.466G>C | ||
| ENST00000531596.5:c.330G>C | ||
| ENST00000533698.5:c.228G>C | ||
| ENST00000534482.5:c.243G>C | ||
| NM_032193.3:c.349G>C , LRG_280t1:c.349G>C | NP_115569.2:p.Asp117His | |
| NM_032193.4:c.349G>C MANE Select | NP_115569.2:p.Asp117His |