Linked Data
ClinVar Variation Id:
204600
dbSNP Id:
rs113082671
ExAC:
1:40539727 C / T
gnomAD v2:
1-40539727-C-T
gnomAD v3:
1-40074055-C-T
gnomAD v4:
1-40074055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074055C>T , CM000663.2:g.40074055C>T | GRCh38 |
| NC_000001.10:g.40539727C>T , CM000663.1:g.40539727C>T | GRCh37 |
| NC_000001.9:g.40312314C>T | NCBI36 |
| NG_009192.1:g.28416G>A , LRG_690:g.28416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.*6G>A | ENSP00000394863.4:n.*6G>A | |
| ENST00000439754.6:c.*6G>A | ENSP00000403207.2:n.*6G>A | |
| ENST00000449045.7:c.*6G>A | ENSP00000392293.2:n.*6G>A | |
| ENST00000530076.6:c.*6G>A | ENSP00000434007.1:n.*6G>A | |
| ENST00000530704.6:c.*550G>A | ENSP00000431655.1:n.*550G>A | |
| ENST00000641083.1:c.1017G>A | ||
| ENST00000641236.1:n.1164G>A | ||
| ENST00000641319.1:c.*137G>A | ENSP00000493128.1:n.*137G>A | |
| ENST00000641381.1:c.349G>A | ||
| ENST00000641471.1:c.*6G>A | ENSP00000493146.1:n.*6G>A | |
| ENST00000641691.1:c.*779G>A | ENSP00000492910.1:n.*779G>A | |
| ENST00000641924.1:c.*356G>A | ENSP00000493063.1:n.*356G>A | |
| ENST00000642050.2:c.*6G>A MANE Select | ENSP00000493153.1:n.*6G>A | |
| ENST00000372775.2:n.324G>A | ||
| ENST00000433473.7:c.*6G>A | ENSP00000394863.3:n.*6G>A | |
| ENST00000439754.5:c.540G>A | ENSP00000403207.1:n.540G>A | |
| ENST00000449045.6:c.*6G>A | ENSP00000392293.2:n.*6G>A | |
| ENST00000529905.5:c.*6G>A | ENSP00000432053.1:n.*6G>A | |
| ENST00000530076.5:c.*6G>A | ENSP00000434007.1:n.*6G>A | |
| ENST00000530704.5:c.*550G>A | ENSP00000431655.1:n.*550G>A | |
| NM_000310.3:c.*6G>A , LRG_690t1:c.*6G>A | NP_000301.1:n.*6G>A | |
| NM_001142604.1:c.*6G>A | NP_001136076.1:n.*6G>A | |
| XM_005271008.1:c.*6G>A | XP_005271065.1:n.*6G>A | |
| NM_001363695.1:c.*6G>A | NP_001350624.1:n.*6G>A | |
| NM_000310.4:c.*6G>A MANE Select | NP_000301.1:n.*6G>A | |
| NM_001142604.2:c.*6G>A | NP_001136076.1:n.*6G>A | |
| NM_001363695.2:c.*6G>A | NP_001350624.1:n.*6G>A |