Linked Data
dbSNP Id:
rs1260112565
gnomAD v2:
2-73717359-A-G
gnomAD v3:
2-73490232-A-G
gnomAD v4:
2-73490232-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490232A>G , CM000664.2:g.73490232A>G | GRCh38 |
| NC_000002.11:g.73717359A>G , CM000664.1:g.73717359A>G | GRCh37 |
| NC_000002.10:g.73570867A>G | NCBI36 |
| NG_011690.1:g.109480A>G , LRG_741:g.109480A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7892A>G | ENSP00000507671.1:p.Gln2631Arg | |
| ENST00000682801.1:c.7892A>G | ENSP00000507862.1:p.Gln2631Arg | |
| ENST00000682859.1:c.7892A>G | ENSP00000508222.1:p.Gln2631Arg | |
| ENST00000683791.1:c.1284A>G | ||
| ENST00000684460.1:c.5344A>G | ||
| ENST00000684548.1:c.7892A>G | ENSP00000507421.1:p.Gln2631Arg | |
| ENST00000684590.1:c.2339A>G | ENSP00000507376.1:p.Gln780Arg | |
| ENST00000684656.1:c.5344A>G | ||
| ENST00000613296.6:c.8273A>G MANE Select | ENSP00000482968.1:p.Gln2758Arg | |
| ENST00000651434.1:c.896-29543A>G | ||
| ENST00000423048.5:c.3030+74A>G | ENSP00000399833.1:n.3030+74A>G | |
| ENST00000484298.5:c.8147A>G | ENSP00000478155.1:p.Gln2716Arg | |
| ENST00000613296.4:c.8273A>G | ENSP00000482968.1:p.Gln2758Arg | |
| ENST00000614410.4:c.8273A>G | ENSP00000479094.1:p.Gln2758Arg | |
| ENST00000620466.4:n.2076A>G | ||
| NM_015120.4:c.8276A>G , LRG_741t1:c.8276A>G | NP_055935.4:p.Gln2759Arg | |
| NM_001378454.1:c.8273A>G MANE Select | NP_001365383.1:p.Gln2758Arg |