Linked Data
dbSNP Id:
rs761194290
ExAC:
14:95085831 C / G
gnomAD v2:
14-95085831-C-G
gnomAD v3:
14-94619494-C-G
gnomAD v4:
14-94619494-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619494C>G , CM000676.2:g.94619494C>G | GRCh38 |
| NC_000014.8:g.95085831C>G , CM000676.1:g.95085831C>G | GRCh37 |
| NC_000014.7:g.94155584C>G | NCBI36 |
| NG_012879.1:g.12118C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.917+26C>G MANE Select | ENSP00000376793.3:n.917+26C>G | |
| ENST00000393078.4:c.917+26C>G | ENSP00000376793.3:n.917+26C>G | |
| ENST00000393080.8:c.917+26C>G | ENSP00000376795.4:n.917+26C>G | |
| ENST00000467132.5:c.917+26C>G | ENSP00000450540.1:n.917+26C>G | |
| ENST00000482740.2:c.263+26C>G | ENSP00000451119.1:n.263+26C>G | |
| ENST00000553947.1:c.1880+26C>G | ||
| ENST00000556388.1:n.58-2847C>G | ||
| ENST00000556968.2:c.644-2847C>G | ENSP00000452476.1:n.644-2847C>G | |
| ENST00000621603.1:c.162C>G | ||
| NM_001085.4:c.917+26C>G | NP_001076.2:n.917+26C>G | |
| NM_001085.5:c.917+26C>G MANE Select | NP_001076.2:n.917+26C>G | |
| NM_001384672.1:c.917+26C>G | NP_001371601.1:n.917+26C>G | |
| NM_001384673.1:c.917+26C>G | NP_001371602.1:n.917+26C>G | |
| NM_001384674.1:c.917+26C>G | NP_001371603.1:n.917+26C>G |