Linked Data
ClinVar Variation Id:
56212
ClinVar RCV Id:
RCV000049623
dbSNP Id:
rs386833663
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078603A>C , CM000663.2:g.40078603A>C | GRCh38 |
| NC_000001.10:g.40544275A>C , CM000663.1:g.40544275A>C | GRCh37 |
| NC_000001.9:g.40316862A>C | NCBI36 |
| NG_009192.1:g.23868T>G , LRG_690:g.23868T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.680T>G | ENSP00000394863.4:p.Val227Gly | |
| ENST00000439754.6:c.683T>G | ENSP00000403207.2:p.Val228Gly | |
| ENST00000449045.7:c.374T>G | ENSP00000392293.2:p.Val125Gly | |
| ENST00000527311.7:c.452T>G | ENSP00000436695.3:p.Val151Gly | |
| ENST00000530076.6:c.26T>G | ENSP00000434007.1:p.Val9Gly | |
| ENST00000530704.6:c.*306T>G | ENSP00000431655.1:n.*306T>G | |
| ENST00000641083.1:c.661T>G | ||
| ENST00000641236.1:n.920T>G | ||
| ENST00000641319.1:c.683T>G | ENSP00000493128.1:p.Val228Gly | |
| ENST00000641381.1:c.149-1690T>G | ||
| ENST00000641471.1:c.770T>G | ENSP00000493146.1:p.Val257Gly | |
| ENST00000641691.1:c.*535T>G | ENSP00000492910.1:n.*535T>G | |
| ENST00000641924.1:c.*112T>G | ENSP00000493063.1:n.*112T>G | |
| ENST00000642050.2:c.683T>G MANE Select | ENSP00000493153.1:p.Val228Gly | |
| ENST00000372775.2:n.80T>G | ||
| ENST00000372779.8:c.770T>G | ENSP00000361865.4:p.Val257Gly | |
| ENST00000433473.7:c.683T>G | ENSP00000394863.3:p.Val228Gly | |
| ENST00000439754.5:c.368T>G | ENSP00000403207.1:p.Val123Gly | |
| ENST00000449045.6:c.374T>G | ENSP00000392293.2:p.Val125Gly | |
| ENST00000527311.6:c.458T>G | ENSP00000436695.2:p.Val153Gly | |
| ENST00000529905.5:c.683T>G | ENSP00000432053.1:p.Val228Gly | |
| ENST00000530076.5:c.26T>G | ENSP00000434007.1:p.Val9Gly | |
| ENST00000530704.5:c.*306T>G | ENSP00000431655.1:n.*306T>G | |
| NM_000310.3:c.683T>G , LRG_690t1:c.683T>G | NP_000301.1:p.Val228Gly | |
| NM_001142604.1:c.374T>G | NP_001136076.1:p.Val125Gly | |
| XM_005271008.1:c.683T>G | XP_005271065.1:p.Val228Gly | |
| NM_001363695.1:c.683T>G | NP_001350624.1:p.Val228Gly | |
| NM_000310.4:c.683T>G MANE Select | NP_000301.1:p.Val228Gly | |
| NM_001142604.2:c.374T>G | NP_001136076.1:p.Val125Gly | |
| NM_001363695.2:c.683T>G | NP_001350624.1:p.Val228Gly |