Linked Data
ClinVar Variation Id:
212728
dbSNP Id:
rs772136379
ExAC:
2:73678796 T / G
gnomAD v2:
2-73678796-T-G
gnomAD v3:
2-73451669-T-G
gnomAD v4:
2-73451669-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73451669T>G , CM000664.2:g.73451669T>G | GRCh38 |
| NC_000002.11:g.73678796T>G , CM000664.1:g.73678796T>G | GRCh37 |
| NC_000002.10:g.73532304T>G | NCBI36 |
| NG_011690.1:g.70917T>G , LRG_741:g.70917T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.4761T>G | ENSP00000507671.1:p.Tyr1587Ter | |
| ENST00000682801.1:c.4761T>G | ENSP00000507862.1:p.Tyr1587Ter | |
| ENST00000682859.1:c.4761T>G | ENSP00000508222.1:p.Tyr1587Ter | |
| ENST00000683791.1:c.685+19378T>G | ||
| ENST00000684197.1:n.111T>G | ||
| ENST00000684460.1:c.2213T>G | ||
| ENST00000684548.1:c.4761T>G | ENSP00000507421.1:p.Tyr1587Ter | |
| ENST00000684656.1:c.2213T>G | ||
| ENST00000613296.6:c.5142T>G MANE Select | ENSP00000482968.1:p.Tyr1714Ter | |
| ENST00000484298.5:c.5016T>G | ENSP00000478155.1:p.Tyr1672Ter | |
| ENST00000613296.4:c.5142T>G | ENSP00000482968.1:p.Tyr1714Ter | |
| ENST00000614410.4:c.5142T>G | ENSP00000479094.1:p.Tyr1714Ter | |
| NM_015120.4:c.5145T>G , LRG_741t1:c.5145T>G | NP_055935.4:p.Tyr1715Ter | |
| NM_001378454.1:c.5142T>G MANE Select | NP_001365383.1:p.Tyr1714Ter |