Linked Data
dbSNP Id:
rs200346442
ExAC:
10:96535186 G / A
gnomAD v2:
10-96535186-G-A
gnomAD v3:
10-94775429-G-A
gnomAD v4:
10-94775429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775429G>A , CM000672.2:g.94775429G>A | GRCh38 |
| NC_000010.10:g.96535186G>A , CM000672.1:g.96535186G>A | GRCh37 |
| NC_000010.9:g.96525176G>A | NCBI36 |
| NG_008384.2:g.17724G>A | |
| NG_008384.3:g.17749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.371G>A MANE Select | ENSP00000360372.3:p.Arg124Gln | |
| ENST00000645461.1:n.1424G>A | ||
| ENST00000371321.7:c.371G>A | ENSP00000360372.3:p.Arg124Gln | |
| ENST00000464755.1:c.1134G>A | ENSP00000483243.1:n.1134G>A | |
| ENST00000480405.2:c.371G>A | ENSP00000483847.1:p.Arg124Gln | |
| NM_000769.2:c.371G>A | NP_000760.1:p.Arg124Gln | |
| NM_000769.4:c.371G>A MANE Select | NP_000760.1:p.Arg124Gln |