Linked Data
ClinVar Variation Id:
310034
ClinVar RCV Id:
RCV000285216
dbSNP Id:
rs886049736
gnomAD v4:
12-5952410-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5952410T>C , CM000674.2:g.5952410T>C | GRCh38 |
| NC_000012.11:g.6061576T>C , CM000674.1:g.6061576T>C | GRCh37 |
| NC_000012.10:g.5931837T>C | NCBI36 |
| NG_009072.1:g.177261A>G | |
| NG_009072.2:g.177261A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.8096A>G MANE Select | ENSP00000261405.5:p.His2699Arg | |
| ENST00000261405.9:c.8096A>G | ENSP00000261405.5:p.His2699Arg | |
| ENST00000612016.1:n.505A>G | ||
| ENST00000621700.1:n.414A>G | ||
| NM_000552.3:c.8096A>G | NP_000543.2:p.His2699Arg | |
| NM_000552.4:c.8096A>G | NP_000543.2:p.His2699Arg | |
| NM_000552.5:c.8096A>G MANE Select | NP_000543.3:p.His2699Arg |