Linked Data
ClinVar Variation Id:
56207
ClinVar RCV Id:
RCV000049618
dbSNP Id:
rs386833658
gnomAD v3:
1-40080458-G-C
gnomAD v4:
1-40080458-G-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080458G>C , CM000663.2:g.40080458G>C | GRCh38 |
| NC_000001.10:g.40546130G>C , CM000663.1:g.40546130G>C | GRCh37 |
| NC_000001.9:g.40318717G>C | NCBI36 |
| NG_009192.1:g.22013C>G , LRG_690:g.22013C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*402C>G | ENSP00000361865.5:n.*402C>G | |
| ENST00000433473.8:c.563C>G | ENSP00000394863.4:p.Pro188Arg | |
| ENST00000439754.6:c.566C>G | ENSP00000403207.2:p.Pro189Arg | |
| ENST00000449045.7:c.257C>G | ENSP00000392293.2:p.Pro86Arg | |
| ENST00000527311.7:c.335C>G | ENSP00000436695.3:p.Pro112Arg | |
| ENST00000530076.6:c.-92C>G | ENSP00000434007.1:n.-92C>G | |
| ENST00000530704.6:c.*189C>G | ENSP00000431655.1:n.*189C>G | |
| ENST00000641083.1:c.544C>G | ||
| ENST00000641236.1:n.803C>G | ||
| ENST00000641319.1:c.566C>G | ENSP00000493128.1:p.Pro189Arg | |
| ENST00000641381.1:c.149-3545C>G | ||
| ENST00000641471.1:c.653C>G | ENSP00000493146.1:p.Pro218Arg | |
| ENST00000641691.1:c.*418C>G | ENSP00000492910.1:n.*418C>G | |
| ENST00000641924.1:c.154C>G | ENSP00000493063.1:p.Pro52Ala | |
| ENST00000642050.2:c.566C>G MANE Select | ENSP00000493153.1:p.Pro189Arg | |
| ENST00000372779.8:c.653C>G | ENSP00000361865.4:p.Pro218Arg | |
| ENST00000433473.7:c.566C>G | ENSP00000394863.3:p.Pro189Arg | |
| ENST00000439754.5:c.251C>G | ENSP00000403207.1:p.Pro84Arg | |
| ENST00000449045.6:c.257C>G | ENSP00000392293.2:p.Pro86Arg | |
| ENST00000527311.6:c.341C>G | ENSP00000436695.2:p.Pro114Arg | |
| ENST00000529905.5:c.566C>G | ENSP00000432053.1:p.Pro189Arg | |
| ENST00000530076.5:c.-92C>G | ENSP00000434007.1:n.-92C>G | |
| ENST00000530704.5:c.*189C>G | ENSP00000431655.1:n.*189C>G | |
| NM_000310.3:c.566C>G , LRG_690t1:c.566C>G | NP_000301.1:p.Pro189Arg | |
| NM_001142604.1:c.257C>G | NP_001136076.1:p.Pro86Arg | |
| XM_005271008.1:c.566C>G | XP_005271065.1:p.Pro189Arg | |
| NM_001363695.1:c.566C>G | NP_001350624.1:p.Pro189Arg | |
| NM_000310.4:c.566C>G MANE Select | NP_000301.1:p.Pro189Arg | |
| NM_001142604.2:c.257C>G | NP_001136076.1:p.Pro86Arg | |
| NM_001363695.2:c.566C>G | NP_001350624.1:p.Pro189Arg |