Linked Data
ClinVar Variation Id:
216936
ClinVar RCV Id:
RCV000198720
dbSNP Id:
rs772871471
ExAC:
9:6587249 G / C
gnomAD v2:
9-6587249-G-C
gnomAD v4:
9-6587249-G-C
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6587249G>C , CM000671.2:g.6587249G>C | GRCh38 |
| NC_000009.11:g.6587249G>C , CM000671.1:g.6587249G>C | GRCh37 |
| NC_000009.10:g.6577249G>C | NCBI36 |
| NG_016397.1:g.63444C>G , LRG_643:g.63444C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1742C>G MANE Select | ENSP00000370737.4:p.Pro581Arg | |
| ENST00000639364.1:n.1442C>G | ||
| ENST00000639443.1:n.1310C>G | ||
| ENST00000639954.1:n.1450C>G | ||
| ENST00000640592.1:n.1625C>G | ||
| ENST00000321612.6:c.1742C>G | ENSP00000370737.3:p.Pro581Arg | |
| NM_000170.2:c.1742C>G , LRG_643t1:c.1742C>G | NP_000161.2:p.Pro581Arg | |
| NM_000170.3:c.1742C>G MANE Select | NP_000161.2:p.Pro581Arg |