Linked Data
dbSNP Id:
rs1190820294
gnomAD v2:
14-95085759-C-T
gnomAD v3:
14-94619422-C-T
gnomAD v4:
14-94619422-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619422C>T , CM000676.2:g.94619422C>T | GRCh38 |
| NC_000014.8:g.95085759C>T , CM000676.1:g.95085759C>T | GRCh37 |
| NC_000014.7:g.94155512C>T | NCBI36 |
| NG_012879.1:g.12046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.871C>T MANE Select | ENSP00000376793.3:p.Leu291= | |
| ENST00000393078.4:c.871C>T | ENSP00000376793.3:p.Leu291= | |
| ENST00000393080.8:c.871C>T | ENSP00000376795.4:p.Leu291= | |
| ENST00000467132.5:c.871C>T | ENSP00000450540.1:p.Leu291= | |
| ENST00000482740.2:c.217C>T | ENSP00000451119.1:p.Leu73= | |
| ENST00000553947.1:c.1834C>T | ||
| ENST00000555820.1:c.871C>T | ENSP00000452246.3:p.Leu291= | |
| ENST00000556388.1:n.58-2919C>T | ||
| ENST00000556968.2:c.644-2919C>T | ENSP00000452476.1:n.644-2919C>T | |
| ENST00000621603.1:c.90C>T | ||
| NM_001085.4:c.871C>T | NP_001076.2:p.Leu291= | |
| NM_001085.5:c.871C>T MANE Select | NP_001076.2:p.Leu291= | |
| NM_001384672.1:c.871C>T | NP_001371601.1:p.Leu291= | |
| NM_001384673.1:c.871C>T | NP_001371602.1:p.Leu291= | |
| NM_001384674.1:c.871C>T | NP_001371603.1:p.Leu291= |