Linked Data
dbSNP Id:
rs548450663
ExAC:
17:61559907 A / G
gnomAD v2:
17-61559907-A-G
gnomAD v3:
17-63482546-A-G
gnomAD v4:
17-63482546-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63482546A>G , CM000679.2:g.63482546A>G | GRCh38 |
| NC_000017.10:g.61559907A>G , CM000679.1:g.61559907A>G | GRCh37 |
| NC_000017.9:g.58913639A>G | NCBI36 |
| NG_011648.1:g.10474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1199A>G MANE Select | ENSP00000290866.4:p.Gln400Arg | |
| ENST00000290866.9:c.1199A>G | ENSP00000290866.4:p.Gln400Arg | |
| ENST00000428043.5:c.1199A>G | ENSP00000397593.2:p.Gln400Arg | |
| ENST00000582678.5:c.*598A>G | ENSP00000462995.1:n.*598A>G | |
| ENST00000584529.5:n.1233A>G | ||
| NM_000789.3:c.1199A>G | NP_000780.1:p.Gln400Arg | |
| XM_005257110.1:c.650A>G | XP_005257167.1:p.Gln217Arg | |
| NM_000789.4:c.1199A>G MANE Select | NP_000780.1:p.Gln400Arg | |
| NM_001382700.1:c.632A>G | NP_001369629.1:p.Gln211Arg | |
| NM_001382701.1:c.347A>G | NP_001369630.1:p.Gln116Arg |