Linked Data
ClinVar Variation Id:
416009
dbSNP Id:
rs371213189
ExAC:
1:40539844 C / G
gnomAD v2:
1-40539844-C-G
gnomAD v3:
1-40074172-C-G
gnomAD v4:
1-40074172-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074172C>G , CM000663.2:g.40074172C>G | GRCh38 |
| NC_000001.10:g.40539844C>G , CM000663.1:g.40539844C>G | GRCh37 |
| NC_000001.9:g.40312431C>G | NCBI36 |
| NG_009192.1:g.28299G>C , LRG_690:g.28299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.807G>C | ENSP00000394863.4:p.Gly269= | |
| ENST00000439754.6:c.738G>C | ENSP00000403207.2:p.Gly246= | |
| ENST00000449045.7:c.501G>C | ENSP00000392293.2:p.Gly167= | |
| ENST00000527311.7:c.579G>C | ENSP00000436695.3:p.Gly193= | |
| ENST00000530076.6:c.153G>C | ENSP00000434007.1:p.Gly51= | |
| ENST00000530704.6:c.*433G>C | ENSP00000431655.1:n.*433G>C | |
| ENST00000641083.1:c.900G>C | ||
| ENST00000641236.1:n.1047G>C | ||
| ENST00000641319.1:c.*20G>C | ENSP00000493128.1:n.*20G>C | |
| ENST00000641381.1:c.232G>C | ||
| ENST00000641471.1:c.897G>C | ENSP00000493146.1:p.Gly299= | |
| ENST00000641691.1:c.*662G>C | ENSP00000492910.1:n.*662G>C | |
| ENST00000641924.1:c.*239G>C | ENSP00000493063.1:n.*239G>C | |
| ENST00000642050.2:c.810G>C MANE Select | ENSP00000493153.1:p.Gly270= | |
| ENST00000372775.2:n.207G>C | ||
| ENST00000433473.7:c.810G>C | ENSP00000394863.3:p.Gly270= | |
| ENST00000439754.5:c.423G>C | ENSP00000403207.1:p.Gly141= | |
| ENST00000449045.6:c.501G>C | ENSP00000392293.2:p.Gly167= | |
| ENST00000527311.6:c.585G>C | ENSP00000436695.2:p.Gly195= | |
| ENST00000529905.5:c.810G>C | ENSP00000432053.1:p.Gly270= | |
| ENST00000530076.5:c.153G>C | ENSP00000434007.1:p.Gly51= | |
| ENST00000530704.5:c.*433G>C | ENSP00000431655.1:n.*433G>C | |
| NM_000310.3:c.810G>C , LRG_690t1:c.810G>C | NP_000301.1:p.Gly270= | |
| NM_001142604.1:c.501G>C | NP_001136076.1:p.Gly167= | |
| XM_005271008.1:c.738G>C | XP_005271065.1:p.Gly246= | |
| NM_001363695.1:c.738G>C | NP_001350624.1:p.Gly246= | |
| NM_000310.4:c.810G>C MANE Select | NP_000301.1:p.Gly270= | |
| NM_001142604.2:c.501G>C | NP_001136076.1:p.Gly167= | |
| NM_001363695.2:c.738G>C | NP_001350624.1:p.Gly246= |