Linked Data
ClinVar Variation Id:
1111165
ClinVar RCV Id:
RCV001437653
dbSNP Id:
rs767409467
ExAC:
2:73716787 A / T
gnomAD v2:
2-73716787-A-T
gnomAD v4:
2-73489660-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489660A>T , CM000664.2:g.73489660A>T | GRCh38 |
| NC_000002.11:g.73716787A>T , CM000664.1:g.73716787A>T | GRCh37 |
| NC_000002.10:g.73570295A>T | NCBI36 |
| NG_011690.1:g.108908A>T , LRG_741:g.108908A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7320A>T | ENSP00000507671.1:p.Gly2440= | |
| ENST00000682801.1:c.7320A>T | ENSP00000507862.1:p.Gly2440= | |
| ENST00000682859.1:c.7320A>T | ENSP00000508222.1:p.Gly2440= | |
| ENST00000683791.1:c.712A>T | ||
| ENST00000684460.1:c.4772A>T | ||
| ENST00000684548.1:c.7320A>T | ENSP00000507421.1:p.Gly2440= | |
| ENST00000684590.1:c.1767A>T | ENSP00000507376.1:p.Gly589= | |
| ENST00000684656.1:c.4772A>T | ||
| ENST00000613296.6:c.7701A>T MANE Select | ENSP00000482968.1:p.Gly2567= | |
| ENST00000651434.1:c.896-30115A>T | ||
| ENST00000423048.5:c.2532A>T | ENSP00000399833.1:p.Gly844= | |
| ENST00000484298.5:c.7575A>T | ENSP00000478155.1:p.Gly2525= | |
| ENST00000613296.4:c.7701A>T | ENSP00000482968.1:p.Gly2567= | |
| ENST00000614410.4:c.7701A>T | ENSP00000479094.1:p.Gly2567= | |
| ENST00000620466.4:n.1504A>T | ||
| NM_015120.4:c.7704A>T , LRG_741t1:c.7704A>T | NP_055935.4:p.Gly2568= | |
| NM_001378454.1:c.7701A>T MANE Select | NP_001365383.1:p.Gly2567= |