Linked Data
ClinVar Variation Id:
1431385
ClinVar RCV Id:
RCV001972054
dbSNP Id:
rs137852700
ExAC:
1:40555167 G / C
gnomAD v2:
1-40555167-G-C
gnomAD v4:
1-40089495-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089495G>C , CM000663.2:g.40089495G>C | GRCh38 |
| NC_000001.10:g.40555167G>C , CM000663.1:g.40555167G>C | GRCh37 |
| NC_000001.9:g.40327754G>C | NCBI36 |
| NG_009192.1:g.12976C>G , LRG_690:g.12976C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*287C>G | ENSP00000361865.5:n.*287C>G | |
| ENST00000433473.8:c.448C>G | ENSP00000394863.4:p.Arg150Gly | |
| ENST00000439754.6:c.451C>G | ENSP00000403207.2:p.Arg151Gly | |
| ENST00000449045.7:c.142C>G | ENSP00000392293.2:p.Arg48Gly | |
| ENST00000526547.2:c.731C>G | ||
| ENST00000527311.7:c.305+1834C>G | ENSP00000436695.3:n.305+1834C>G | |
| ENST00000530704.6:c.*74C>G | ENSP00000431655.1:n.*74C>G | |
| ENST00000641083.1:c.429C>G | ||
| ENST00000641236.1:n.688C>G | ||
| ENST00000641319.1:c.451C>G | ENSP00000493128.1:p.Arg151Gly | |
| ENST00000641381.1:c.63C>G | ||
| ENST00000641471.1:c.538C>G | ENSP00000493146.1:p.Arg180Gly | |
| ENST00000641691.1:c.*303C>G | ENSP00000492910.1:n.*303C>G | |
| ENST00000641924.1:c.124+7620C>G | ENSP00000493063.1:n.124+7620C>G | |
| ENST00000642050.2:c.451C>G MANE Select | ENSP00000493153.1:p.Arg151Gly | |
| ENST00000372779.8:c.538C>G | ENSP00000361865.4:p.Arg180Gly | |
| ENST00000433473.7:c.451C>G | ENSP00000394863.3:p.Arg151Gly | |
| ENST00000439754.5:c.136C>G | ENSP00000403207.1:p.Arg46Gly | |
| ENST00000449045.6:c.142C>G | ENSP00000392293.2:p.Arg48Gly | |
| ENST00000527311.6:c.226C>G | ENSP00000436695.2:p.Arg76Gly | |
| ENST00000529905.5:c.451C>G | ENSP00000432053.1:p.Arg151Gly | |
| ENST00000530704.5:c.*74C>G | ENSP00000431655.1:n.*74C>G | |
| NM_000310.3:c.451C>G , LRG_690t1:c.451C>G | NP_000301.1:p.Arg151Gly | |
| NM_001142604.1:c.142C>G | NP_001136076.1:p.Arg48Gly | |
| XM_005271008.1:c.451C>G | XP_005271065.1:p.Arg151Gly | |
| NM_001363695.1:c.451C>G | NP_001350624.1:p.Arg151Gly | |
| NM_000310.4:c.451C>G MANE Select | NP_000301.1:p.Arg151Gly | |
| NM_001142604.2:c.142C>G | NP_001136076.1:p.Arg48Gly | |
| NM_001363695.2:c.451C>G | NP_001350624.1:p.Arg151Gly |