Linked Data
ClinVar Variation Id:
30137
ClinVar RCV Id:
RCV000023048
dbSNP Id:
rs387906785
ExAC:
9:34658532 C / G
gnomAD v2:
9-34658532-C-G
gnomAD v4:
9-34658535-C-G
PubMed:
PMID:21741611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34658535C>G , CM000671.2:g.34658535C>G | GRCh38 |
| NC_000009.11:g.34658532C>G , CM000671.1:g.34658532C>G | GRCh37 |
| NC_000009.10:g.34648532C>G | NCBI36 |
| NG_028966.1:g.11351C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466082.2:c.662C>G | ENSP00000432263.2:p.Pro221Arg | |
| ENST00000478308.2:n.1133C>G | ||
| ENST00000553620.6:c.431C>G | ENSP00000452207.2:p.Pro144Arg | |
| ENST00000555003.6:c.662C>G | ENSP00000450565.2:p.Pro221Arg | |
| ENST00000555981.6:c.662C>G | ENSP00000450640.2:p.Pro221Arg | |
| ENST00000556531.6:c.662C>G | ENSP00000451447.2:p.Pro221Arg | |
| ENST00000684861.1:n.1002C>G | ||
| ENST00000685430.1:c.743C>G | ENSP00000510344.1:n.743C>G | |
| ENST00000685662.1:n.796C>G | ||
| ENST00000685768.1:n.1300C>G | ||
| ENST00000686794.1:n.358C>G | ||
| ENST00000687192.1:n.528C>G | ||
| ENST00000687770.1:n.1856C>G | ||
| ENST00000690286.1:c.662C>G | ENSP00000509204.1:p.Pro221Arg | |
| ENST00000691183.1:c.*3047C>G | ENSP00000509954.1:n.*3047C>G | |
| ENST00000692291.1:n.710C>G | ||
| ENST00000692530.1:n.1029C>G | ||
| ENST00000692788.1:c.*436C>G | ENSP00000510222.1:n.*436C>G | |
| ENST00000441545.7:c.662C>G MANE Select | ENSP00000394391.3:p.Pro221Arg | |
| ENST00000318041.13:c.662C>G | ENSP00000326500.8:p.Pro221Arg | |
| ENST00000441545.6:c.662C>G | ENSP00000394391.2:p.Pro221Arg | |
| ENST00000553620.5:c.431C>G | ENSP00000452207.1:p.Pro144Arg | |
| ENST00000555003.5:c.662C>G | ENSP00000450565.1:p.Pro221Arg | |
| ENST00000555247.5:c.*436C>G | ENSP00000450707.1:n.*436C>G | |
| ENST00000555981.5:c.662C>G | ENSP00000450640.1:p.Pro221Arg | |
| ENST00000557298.5:c.*285C>G | ENSP00000451553.1:n.*285C>G | |
| ENST00000602473.5:c.662C>G | ENSP00000473647.1:p.Pro221Arg | |
| NM_001142784.2:c.662C>G | NP_001136256.1:p.Pro221Arg | |
| NR_052010.1:n.765C>G | ||
| NM_001142784.3:c.662C>G MANE Select | NP_001136256.1:p.Pro221Arg | |
| NR_052010.2:n.749C>G |