Linked Data
ClinVar Variation Id:
1727594
ClinVar RCV Id:
RCV002325934
dbSNP Id:
rs1311780874
gnomAD v2:
7-94033897-T-G
gnomAD v3:
7-94404585-T-G
gnomAD v4:
7-94404585-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404585T>G , CM000669.2:g.94404585T>G | GRCh38 |
| NC_000007.13:g.94033897T>G , CM000669.1:g.94033897T>G | GRCh37 |
| NC_000007.12:g.93871833T>G | NCBI36 |
| NG_007405.1:g.15025T>G , LRG_2:g.15025T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.309T>G MANE Select | ENSP00000297268.6:p.Gly103= | |
| ENST00000297268.10:c.309T>G | ENSP00000297268.6:p.Gly103= | |
| ENST00000620463.1:c.303T>G | ENSP00000477719.1:p.Gly101= | |
| NM_000089.3:c.309T>G , LRG_2t1:c.309T>G | NP_000080.2:p.Gly103= | |
| NM_000089.4:c.309T>G MANE Select | NP_000080.2:p.Gly103= |