Linked Data
ClinVar Variation Id:
318563
dbSNP Id:
rs773723001
ExAC:
16:2367697 G / C
gnomAD v2:
16-2367697-G-C
gnomAD v3:
16-2317696-G-C
gnomAD v4:
16-2317696-G-C
COSMIC:
COSM3279897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317696G>C , CM000678.2:g.2317696G>C | GRCh38 |
| NC_000016.9:g.2367697G>C , CM000678.1:g.2367697G>C | GRCh37 |
| NC_000016.8:g.2307698G>C | NCBI36 |
| NG_011790.1:g.28051C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.942C>G MANE Select | ENSP00000301732.5:p.Leu314= | |
| ENST00000301732.9:c.942C>G | ENSP00000301732.5:p.Leu314= | |
| ENST00000382381.7:c.942C>G | ENSP00000371818.3:p.Leu314= | |
| ENST00000563623.5:n.1505C>G | ||
| NM_001089.2:c.942C>G | NP_001080.2:p.Leu314= | |
| NM_001089.3:c.942C>G MANE Select | NP_001080.2:p.Leu314= |