Linked Data
dbSNP Id:
rs749350262
ExAC:
7:94052357 C / G
gnomAD v2:
7-94052357-C-G
gnomAD v4:
7-94423045-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423045C>G , CM000669.2:g.94423045C>G | GRCh38 |
| NC_000007.13:g.94052357C>G , CM000669.1:g.94052357C>G | GRCh37 |
| NC_000007.12:g.93890293C>G | NCBI36 |
| NG_007405.1:g.33485C>G , LRG_2:g.33485C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2492C>G MANE Select | ENSP00000297268.6:p.Thr831Ser | |
| ENST00000297268.10:c.2492C>G | ENSP00000297268.6:p.Thr831Ser | |
| ENST00000481570.5:n.575C>G | ||
| ENST00000497316.5:n.889C>G | ||
| ENST00000620463.1:c.2486C>G | ENSP00000477719.1:p.Thr829Ser | |
| NM_000089.3:c.2492C>G , LRG_2t1:c.2492C>G | NP_000080.2:p.Thr831Ser | |
| NM_000089.4:c.2492C>G MANE Select | NP_000080.2:p.Thr831Ser |