Linked Data
ClinVar Variation Id:
2050924
ClinVar RCV Id:
RCV002922154
dbSNP Id:
rs376458235
gnomAD v3:
7-92534901-C-G
gnomAD v4:
7-92534901-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92534901C>G , CM000669.2:g.92534901C>G | GRCh38 |
| NC_000007.13:g.92164215C>G , CM000669.1:g.92164215C>G | GRCh37 |
| NC_000007.12:g.92002151C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265732.10:c.948C>G MANE Select | ENSP00000265732.5:p.Ile316Met | |
| ENST00000265732.9:c.948C>G | ENSP00000265732.5:p.Ile316Met | |
| ENST00000481551.5:c.948C>G | ENSP00000419242.1:p.Ile316Met | |
| ENST00000617438.1:c.948C>G | ENSP00000478040.1:p.Ile316Met | |
| NM_032120.2:c.948C>G | NP_115496.2:p.Ile316Met | |
| XM_005250636.3:c.948C>G | XP_005250693.1:p.Ile316Met | |
| XM_006716149.2:c.948C>G | XP_006716212.1:p.Ile316Met | |
| XM_006716150.2:c.948C>G | XP_006716213.1:p.Ile316Met | |
| NM_001363366.1:c.948C>G | NP_001350295.1:p.Ile316Met | |
| NM_001363367.1:c.423C>G | NP_001350296.1:p.Ile141Met | |
| NM_032120.3:c.948C>G | NP_115496.2:p.Ile316Met | |
| XM_005250636.5:c.948C>G | XP_005250693.1:p.Ile316Met | |
| XM_006716149.4:c.948C>G | XP_006716212.1:p.Ile316Met | |
| NM_032120.4:c.948C>G MANE Select | NP_115496.2:p.Ile316Met |