Linked Data
ClinVar Variation Id:
2005793
ClinVar RCV Id:
RCV002825485
dbSNP Id:
rs747689300
ExAC:
7:66103843 A / G
gnomAD v2:
7-66103843-A-G
gnomAD v4:
7-66638856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638856A>G , CM000669.2:g.66638856A>G | GRCh38 |
| NC_000007.13:g.66103843A>G , CM000669.1:g.66103843A>G | GRCh37 |
| NC_000007.12:g.65741278A>G | NCBI36 |
| NG_028110.1:g.14976A>G | |
| NG_028110.2:g.14976A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.454A>G | ENSP00000275532.4:p.Thr152Ala | |
| ENST00000449064.6:c.432A>G | ||
| ENST00000503687.2:c.324A>G | ENSP00000421074.1:p.Arg108= | |
| ENST00000638524.1:c.319A>G | ||
| ENST00000638540.1:c.298A>G | ||
| ENST00000639828.2:c.494A>G MANE Select | ENSP00000492240.1:p.Asp165Gly | |
| ENST00000639879.1:c.*357A>G | ENSP00000492161.1:n.*357A>G | |
| ENST00000640234.1:c.364A>G | ||
| ENST00000640385.1:c.494A>G | ENSP00000491193.1:p.Asp165Gly | |
| ENST00000640601.1:c.1A>G | ||
| ENST00000640851.1:c.494A>G | ENSP00000492577.1:p.Asp165Gly | |
| ENST00000275532.7:c.494A>G | ENSP00000275532.3:p.Asp165Gly | |
| ENST00000443322.1:c.494A>G | ENSP00000411624.1:p.Asp165Gly | |
| ENST00000449064.5:c.324A>G | ENSP00000388463.1:p.Arg108= | |
| ENST00000503687.1:c.324A>G | ENSP00000421074.1:p.Arg108= | |
| NM_001167961.2:c.494A>G | NP_001161433.1:p.Asp165Gly | |
| NM_153033.4:c.494A>G | NP_694578.1:p.Asp165Gly | |
| NM_153033.5:c.494A>G MANE Select | NP_694578.1:p.Asp165Gly |