Linked Data
dbSNP Id:
rs764301040
ExAC:
1:949524 A / G
gnomAD v2:
1-949524-A-G
gnomAD v4:
1-1014144-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014144A>G , CM000663.2:g.1014144A>G | GRCh38 |
| NC_000001.10:g.949524A>G , CM000663.1:g.949524A>G | GRCh37 |
| NC_000001.9:g.939387A>G | NCBI36 |
| NG_033033.1:g.5678A>G | |
| NG_033033.2:g.18007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.140A>G | ENSP00000485643.1:p.Gln47Arg | |
| ENST00000649529.1:c.164A>G MANE Select | ENSP00000496832.1:p.Gln55Arg | |
| ENST00000379389.4:c.164A>G | ENSP00000368699.4:p.Gln55Arg | |
| ENST00000624652.1:c.140A>G | ENSP00000485313.1:p.Gln47Arg | |
| ENST00000624697.3:c.140A>G | ENSP00000485643.1:p.Gln47Arg | |
| NM_005101.3:c.164A>G | NP_005092.1:p.Gln55Arg | |
| NM_005101.4:c.164A>G MANE Select | NP_005092.1:p.Gln55Arg |