Linked Data
dbSNP Id:
rs6683071
ExAC:
1:222923351 A / G
gnomAD v2:
1-222923351-A-G
gnomAD v3:
1-222750009-A-G
gnomAD v4:
1-222750009-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222750009A>G , CM000663.2:g.222750009A>G | GRCh38 |
| NC_000001.10:g.222923351A>G , CM000663.1:g.222923351A>G | GRCh37 |
| NC_000001.9:g.220989974A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445590.4:c.428A>G MANE Select | ENSP00000414451.2:p.Gln143Arg | |
| ENST00000360827.6:c.428A>G | ENSP00000354070.2:p.Gln143Arg | |
| ENST00000391880.6:c.*569A>G | ENSP00000375752.2:n.*569A>G | |
| ENST00000445590.3:c.428A>G | ENSP00000414451.2:p.Gln143Arg | |
| NM_207468.2:c.428A>G | NP_997351.2:p.Gln143Arg | |
| XM_006711318.2:c.241+2928A>G | XP_006711381.1:n.241+2928A>G | |
| NM_001324080.1:c.428A>G | NP_001311009.1:p.Gln143Arg | |
| NR_136691.1:n.1198A>G | ||
| XM_017001279.1:c.428A>G | XP_016856768.1:p.Gln143Arg | |
| XM_017001280.1:c.428A>G | XP_016856769.1:p.Gln143Arg | |
| XM_017001281.1:c.428A>G | XP_016856770.1:p.Gln143Arg | |
| XM_017001282.1:c.428A>G | XP_016856771.1:p.Gln143Arg | |
| XM_017001285.1:c.274+2928A>G | XP_016856774.1:n.274+2928A>G | |
| NM_001324080.2:c.428A>G | NP_001311009.1:p.Gln143Arg | |
| NM_207468.3:c.428A>G | NP_997351.2:p.Gln143Arg | |
| NR_136691.2:n.1212A>G | ||
| NM_001394345.1:c.428A>G MANE Select | NP_001381274.1:p.Gln143Arg |