Linked Data
dbSNP Id:
rs764779670
ExAC:
6:31918446 T / G
gnomAD v2:
6-31918446-T-G
gnomAD v4:
6-31950669-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950669T>G , CM000668.2:g.31950669T>G | GRCh38 |
| NC_000006.11:g.31918446T>G , CM000668.1:g.31918446T>G | GRCh37 |
| NC_000006.10:g.32026425T>G | NCBI36 |
| NG_008191.1:g.9726T>G , LRG_136:g.9726T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2067T>G | ||
| ENST00000483004.2:c.1459T>G | ENSP00000419887.2:p.Tyr487Asp | |
| ENST00000698628.1:c.1624+266T>G | ENSP00000513848.1:n.1624+266T>G | |
| ENST00000698629.1:n.1852T>G | ||
| ENST00000698630.1:n.2391T>G | ||
| ENST00000698631.1:n.2392T>G | ||
| ENST00000698632.1:n.3186T>G | ||
| ENST00000698633.1:n.3076T>G | ||
| ENST00000698636.1:n.1897T>G | ||
| ENST00000425368.7:c.1675T>G MANE Select | ENSP00000416561.2:p.Tyr559Asp | |
| ENST00000425368.6:c.1675T>G | ENSP00000416561.2:p.Tyr559Asp | |
| ENST00000456570.5:c.3181T>G | ENSP00000410815.1:p.Tyr1061Asp | |
| ENST00000467360.1:n.801T>G | ||
| ENST00000477310.1:c.2728T>G | ENSP00000418996.1:p.Tyr910Asp | |
| ENST00000483004.1:c.297T>G | ||
| NM_001710.5:c.1675T>G , LRG_136t1:c.1675T>G | NP_001701.2:p.Tyr559Asp | |
| NM_001710.6:c.1675T>G MANE Select | NP_001701.2:p.Tyr559Asp |