Linked Data
ClinVar Variation Id:
56058
ClinVar RCV Id:
RCV000049467
dbSNP Id:
rs386833539
gnomAD v4:
9-6556257-G-C
PubMed:
PMID:12126939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556257G>C , CM000671.2:g.6556257G>C | GRCh38 |
| NC_000009.11:g.6556257G>C , CM000671.1:g.6556257G>C | GRCh37 |
| NC_000009.10:g.6546257G>C | NCBI36 |
| NG_016397.1:g.94436C>G , LRG_643:g.94436C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2098C>G MANE Select | ENSP00000370737.4:p.Pro700Ala | |
| ENST00000638233.1:n.533C>G | ||
| ENST00000638661.1:c.298C>G | ENSP00000491369.1:p.Pro100Ala | |
| ENST00000638694.1:n.285C>G | ||
| ENST00000639318.1:c.298C>G | ENSP00000491932.1:p.Pro100Ala | |
| ENST00000639364.1:n.1798C>G | ||
| ENST00000639443.1:n.1666C>G | ||
| ENST00000639954.1:n.1806C>G | ||
| ENST00000640505.1:n.337C>G | ||
| ENST00000321612.6:c.2098C>G | ENSP00000370737.3:p.Pro700Ala | |
| NM_000170.2:c.2098C>G , LRG_643t1:c.2098C>G | NP_000161.2:p.Pro700Ala | |
| NM_000170.3:c.2098C>G MANE Select | NP_000161.2:p.Pro700Ala |