Linked Data
ClinVar Variation Id:
747291
ClinVar RCV Id:
RCV000923987
dbSNP Id:
rs148556633
ExAC:
14:95085758 G / T
gnomAD v2:
14-95085758-G-T
gnomAD v3:
14-94619421-G-T
gnomAD v4:
14-94619421-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619421G>T , CM000676.2:g.94619421G>T | GRCh38 |
| NC_000014.8:g.95085758G>T , CM000676.1:g.95085758G>T | GRCh37 |
| NC_000014.7:g.94155511G>T | NCBI36 |
| NG_012879.1:g.12045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.870G>T MANE Select | ENSP00000376793.3:p.Met290Ile | |
| ENST00000393078.4:c.870G>T | ENSP00000376793.3:p.Met290Ile | |
| ENST00000393080.8:c.870G>T | ENSP00000376795.4:p.Met290Ile | |
| ENST00000467132.5:c.870G>T | ENSP00000450540.1:p.Met290Ile | |
| ENST00000482740.2:c.216G>T | ENSP00000451119.1:p.Met72Ile | |
| ENST00000553947.1:c.1833G>T | ||
| ENST00000555820.1:c.870G>T | ENSP00000452246.3:p.Met290Ile | |
| ENST00000556388.1:n.58-2920G>T | ||
| ENST00000556968.2:c.644-2920G>T | ENSP00000452476.1:n.644-2920G>T | |
| ENST00000621603.1:c.89G>T | ||
| NM_001085.4:c.870G>T | NP_001076.2:p.Met290Ile | |
| NM_001085.5:c.870G>T MANE Select | NP_001076.2:p.Met290Ile | |
| NM_001384672.1:c.870G>T | NP_001371601.1:p.Met290Ile | |
| NM_001384673.1:c.870G>T | NP_001371602.1:p.Met290Ile | |
| NM_001384674.1:c.870G>T | NP_001371603.1:p.Met290Ile |