Linked Data
dbSNP Id:
rs147453531
ExAC:
10:96535255 A / G
gnomAD v2:
10-96535255-A-G
gnomAD v3:
10-94775498-A-G
gnomAD v4:
10-94775498-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775498A>G , CM000672.2:g.94775498A>G | GRCh38 |
| NC_000010.10:g.96535255A>G , CM000672.1:g.96535255A>G | GRCh37 |
| NC_000010.9:g.96525245A>G | NCBI36 |
| NG_008384.2:g.17793A>G | |
| NG_008384.3:g.17818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.440A>G MANE Select | ENSP00000360372.3:p.Glu147Gly | |
| ENST00000645461.1:n.1493A>G | ||
| ENST00000371321.7:c.440A>G | ENSP00000360372.3:p.Glu147Gly | |
| ENST00000464755.1:c.1203A>G | ENSP00000483243.1:n.1203A>G | |
| ENST00000480405.2:c.440A>G | ENSP00000483847.1:p.Glu147Gly | |
| NM_000769.2:c.440A>G | NP_000760.1:p.Glu147Gly | |
| NM_000769.4:c.440A>G MANE Select | NP_000760.1:p.Glu147Gly |