Linked Data
dbSNP Id:
rs752850514
ExAC:
2:73717223 A / G
gnomAD v2:
2-73717223-A-G
gnomAD v4:
2-73490096-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490096A>G , CM000664.2:g.73490096A>G | GRCh38 |
| NC_000002.11:g.73717223A>G , CM000664.1:g.73717223A>G | GRCh37 |
| NC_000002.10:g.73570731A>G | NCBI36 |
| NG_011690.1:g.109344A>G , LRG_741:g.109344A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7756A>G | ENSP00000507671.1:p.Thr2586Ala | |
| ENST00000682801.1:c.7756A>G | ENSP00000507862.1:p.Thr2586Ala | |
| ENST00000682859.1:c.7756A>G | ENSP00000508222.1:p.Thr2586Ala | |
| ENST00000683791.1:c.1148A>G | ||
| ENST00000684460.1:c.5208A>G | ||
| ENST00000684548.1:c.7756A>G | ENSP00000507421.1:p.Thr2586Ala | |
| ENST00000684590.1:c.2203A>G | ENSP00000507376.1:p.Thr735Ala | |
| ENST00000684656.1:c.5208A>G | ||
| ENST00000613296.6:c.8137A>G MANE Select | ENSP00000482968.1:p.Thr2713Ala | |
| ENST00000651434.1:c.896-29679A>G | ||
| ENST00000423048.5:c.2968A>G | ENSP00000399833.1:p.Thr990Ala | |
| ENST00000484298.5:c.8011A>G | ENSP00000478155.1:p.Thr2671Ala | |
| ENST00000613296.4:c.8137A>G | ENSP00000482968.1:p.Thr2713Ala | |
| ENST00000614410.4:c.8137A>G | ENSP00000479094.1:p.Thr2713Ala | |
| ENST00000620466.4:n.1940A>G | ||
| NM_015120.4:c.8140A>G , LRG_741t1:c.8140A>G | NP_055935.4:p.Thr2714Ala | |
| NM_001378454.1:c.8137A>G MANE Select | NP_001365383.1:p.Thr2713Ala |