Linked Data
ClinVar Variation Id:
235595
dbSNP Id:
rs58093963
ExAC:
2:73680118 A / G
gnomAD v2:
2-73680118-A-G
gnomAD v3:
2-73452991-A-G
gnomAD v4:
2-73452991-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452991A>G , CM000664.2:g.73452991A>G | GRCh38 |
| NC_000002.11:g.73680118A>G , CM000664.1:g.73680118A>G | GRCh37 |
| NC_000002.10:g.73533626A>G | NCBI36 |
| NG_011690.1:g.72239A>G , LRG_741:g.72239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.6083A>G | ENSP00000507671.1:p.Asp2028Gly | |
| ENST00000682801.1:c.6083A>G | ENSP00000507862.1:p.Asp2028Gly | |
| ENST00000682859.1:c.6083A>G | ENSP00000508222.1:p.Asp2028Gly | |
| ENST00000683791.1:c.685+20700A>G | ||
| ENST00000684197.1:n.1433A>G | ||
| ENST00000684460.1:c.3535A>G | ||
| ENST00000684548.1:c.6083A>G | ENSP00000507421.1:p.Asp2028Gly | |
| ENST00000684590.1:c.581A>G | ENSP00000507376.1:p.Asp194Gly | |
| ENST00000684656.1:c.3535A>G | ||
| ENST00000613296.6:c.6464A>G MANE Select | ENSP00000482968.1:p.Asp2155Gly | |
| ENST00000423048.5:c.1295A>G | ENSP00000399833.1:p.Asp432Gly | |
| ENST00000484298.5:c.6338A>G | ENSP00000478155.1:p.Asp2113Gly | |
| ENST00000613296.4:c.6464A>G | ENSP00000482968.1:p.Asp2155Gly | |
| ENST00000614410.4:c.6464A>G | ENSP00000479094.1:p.Asp2155Gly | |
| ENST00000620466.4:n.267A>G | ||
| NM_015120.4:c.6467A>G , LRG_741t1:c.6467A>G | NP_055935.4:p.Asp2156Gly | |
| NM_001378454.1:c.6464A>G MANE Select | NP_001365383.1:p.Asp2155Gly |