Linked Data
ClinVar Variation Id:
56210
dbSNP Id:
rs386833661
ExAC:
1:40544293 A / G
gnomAD v2:
1-40544293-A-G
gnomAD v3:
1-40078621-A-G
gnomAD v4:
1-40078621-A-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078621A>G , CM000663.2:g.40078621A>G | GRCh38 |
| NC_000001.10:g.40544293A>G , CM000663.1:g.40544293A>G | GRCh37 |
| NC_000001.9:g.40316880A>G | NCBI36 |
| NG_009192.1:g.23850T>C , LRG_690:g.23850T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433473.8:c.662T>C | ENSP00000394863.4:p.Leu221Pro | |
| ENST00000439754.6:c.665T>C | ENSP00000403207.2:p.Leu222Pro | |
| ENST00000449045.7:c.356T>C | ENSP00000392293.2:p.Leu119Pro | |
| ENST00000527311.7:c.434T>C | ENSP00000436695.3:p.Leu145Pro | |
| ENST00000530076.6:c.8T>C | ENSP00000434007.1:p.Leu3Pro | |
| ENST00000530704.6:c.*288T>C | ENSP00000431655.1:n.*288T>C | |
| ENST00000641083.1:c.643T>C | ||
| ENST00000641236.1:n.902T>C | ||
| ENST00000641319.1:c.665T>C | ENSP00000493128.1:p.Leu222Pro | |
| ENST00000641381.1:c.149-1708T>C | ||
| ENST00000641471.1:c.752T>C | ENSP00000493146.1:p.Leu251Pro | |
| ENST00000641691.1:c.*517T>C | ENSP00000492910.1:n.*517T>C | |
| ENST00000641924.1:c.*94T>C | ENSP00000493063.1:n.*94T>C | |
| ENST00000642050.2:c.665T>C MANE Select | ENSP00000493153.1:p.Leu222Pro | |
| ENST00000372775.2:n.62T>C | ||
| ENST00000372779.8:c.752T>C | ENSP00000361865.4:p.Leu251Pro | |
| ENST00000433473.7:c.665T>C | ENSP00000394863.3:p.Leu222Pro | |
| ENST00000439754.5:c.350T>C | ENSP00000403207.1:p.Leu117Pro | |
| ENST00000449045.6:c.356T>C | ENSP00000392293.2:p.Leu119Pro | |
| ENST00000527311.6:c.440T>C | ENSP00000436695.2:p.Leu147Pro | |
| ENST00000529905.5:c.665T>C | ENSP00000432053.1:p.Leu222Pro | |
| ENST00000530076.5:c.8T>C | ENSP00000434007.1:p.Leu3Pro | |
| ENST00000530704.5:c.*288T>C | ENSP00000431655.1:n.*288T>C | |
| NM_000310.3:c.665T>C , LRG_690t1:c.665T>C | NP_000301.1:p.Leu222Pro | |
| NM_001142604.1:c.356T>C | NP_001136076.1:p.Leu119Pro | |
| XM_005271008.1:c.665T>C | XP_005271065.1:p.Leu222Pro | |
| NM_001363695.1:c.665T>C | NP_001350624.1:p.Leu222Pro | |
| NM_000310.4:c.665T>C MANE Select | NP_000301.1:p.Leu222Pro | |
| NM_001142604.2:c.356T>C | NP_001136076.1:p.Leu119Pro | |
| NM_001363695.2:c.665T>C | NP_001350624.1:p.Leu222Pro |