Linked Data
dbSNP Id:
rs528571459
ExAC:
14:95085830 C / T
gnomAD v2:
14-95085830-C-T
gnomAD v3:
14-94619493-C-T
gnomAD v4:
14-94619493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619493C>T , CM000676.2:g.94619493C>T | GRCh38 |
| NC_000014.8:g.95085830C>T , CM000676.1:g.95085830C>T | GRCh37 |
| NC_000014.7:g.94155583C>T | NCBI36 |
| NG_012879.1:g.12117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.917+25C>T MANE Select | ENSP00000376793.3:n.917+25C>T | |
| ENST00000393078.4:c.917+25C>T | ENSP00000376793.3:n.917+25C>T | |
| ENST00000393080.8:c.917+25C>T | ENSP00000376795.4:n.917+25C>T | |
| ENST00000467132.5:c.917+25C>T | ENSP00000450540.1:n.917+25C>T | |
| ENST00000482740.2:c.263+25C>T | ENSP00000451119.1:n.263+25C>T | |
| ENST00000553947.1:c.1880+25C>T | ||
| ENST00000556388.1:n.58-2848C>T | ||
| ENST00000556968.2:c.644-2848C>T | ENSP00000452476.1:n.644-2848C>T | |
| ENST00000621603.1:c.161C>T | ||
| NM_001085.4:c.917+25C>T | NP_001076.2:n.917+25C>T | |
| NM_001085.5:c.917+25C>T MANE Select | NP_001076.2:n.917+25C>T | |
| NM_001384672.1:c.917+25C>T | NP_001371601.1:n.917+25C>T | |
| NM_001384673.1:c.917+25C>T | NP_001371602.1:n.917+25C>T | |
| NM_001384674.1:c.917+25C>T | NP_001371603.1:n.917+25C>T |