Linked Data
ClinVar Variation Id:
390350
dbSNP Id:
rs35902379
ExAC:
2:73835677 G / T
gnomAD v2:
2-73835677-G-T
gnomAD v3:
2-73608550-G-T
gnomAD v4:
2-73608550-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73608550G>T , CM000664.2:g.73608550G>T | GRCh38 |
| NC_000002.11:g.73835677G>T , CM000664.1:g.73835677G>T | GRCh37 |
| NC_000002.10:g.73689185G>T | NCBI36 |
| NG_011690.1:g.227798G>T , LRG_741:g.227798G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.12135G>T | ENSP00000507671.1:n.12135G>T | |
| ENST00000682801.1:c.11490G>T | ENSP00000507862.1:p.Arg3830= | |
| ENST00000682859.1:c.12057G>T | ENSP00000508222.1:p.Arg4019= | |
| ENST00000683108.1:n.180G>T | ||
| ENST00000683147.1:n.3517G>T | ||
| ENST00000683791.1:c.5143G>T | ||
| ENST00000684460.1:c.9338G>T | ||
| ENST00000684548.1:c.12057G>T | ENSP00000507421.1:p.Arg4019= | |
| ENST00000684590.1:c.6504G>T | ENSP00000507376.1:p.Arg2168= | |
| ENST00000684656.1:c.9522G>T | ||
| ENST00000613296.6:c.12438G>T MANE Select | ENSP00000482968.1:p.Arg4146= | |
| ENST00000651057.1:c.2592G>T | ENSP00000498504.1:p.Arg864= | |
| ENST00000651434.1:c.3794G>T | ||
| ENST00000651750.1:c.1584G>T | ||
| ENST00000652487.1:c.3609G>T | ||
| ENST00000484298.5:c.12312G>T | ENSP00000478155.1:p.Arg4104= | |
| ENST00000490821.1:n.82G>T | ||
| ENST00000613296.4:c.12438G>T | ENSP00000482968.1:p.Arg4146= | |
| NM_015120.4:c.12441G>T , LRG_741t1:c.12441G>T | NP_055935.4:p.Arg4147= | |
| NM_001378454.1:c.12438G>T MANE Select | NP_001365383.1:p.Arg4146= |