Linked Data
dbSNP Id:
rs375662885
ExAC:
14:95085764 C / A
gnomAD v2:
14-95085764-C-A
gnomAD v3:
14-94619427-C-A
gnomAD v4:
14-94619427-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619427C>A , CM000676.2:g.94619427C>A | GRCh38 |
| NC_000014.8:g.95085764C>A , CM000676.1:g.95085764C>A | GRCh37 |
| NC_000014.7:g.94155517C>A | NCBI36 |
| NG_012879.1:g.12051C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.876C>A MANE Select | ENSP00000376793.3:p.Leu292= | |
| ENST00000393078.4:c.876C>A | ENSP00000376793.3:p.Leu292= | |
| ENST00000393080.8:c.876C>A | ENSP00000376795.4:p.Leu292= | |
| ENST00000467132.5:c.876C>A | ENSP00000450540.1:p.Leu292= | |
| ENST00000482740.2:c.222C>A | ENSP00000451119.1:p.Leu74= | |
| ENST00000553947.1:c.1839C>A | ||
| ENST00000555820.1:c.876C>A | ENSP00000452246.3:p.Leu292= | |
| ENST00000556388.1:n.58-2914C>A | ||
| ENST00000556968.2:c.644-2914C>A | ENSP00000452476.1:n.644-2914C>A | |
| ENST00000621603.1:c.95C>A | ||
| NM_001085.4:c.876C>A | NP_001076.2:p.Leu292= | |
| NM_001085.5:c.876C>A MANE Select | NP_001076.2:p.Leu292= | |
| NM_001384672.1:c.876C>A | NP_001371601.1:p.Leu292= | |
| NM_001384673.1:c.876C>A | NP_001371602.1:p.Leu292= | |
| NM_001384674.1:c.876C>A | NP_001371603.1:p.Leu292= |