Linked Data
dbSNP Id:
rs1017134973
gnomAD v2:
14-95085797-G-A
gnomAD v3:
14-94619460-G-A
gnomAD v4:
14-94619460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619460G>A , CM000676.2:g.94619460G>A | GRCh38 |
| NC_000014.8:g.95085797G>A , CM000676.1:g.95085797G>A | GRCh37 |
| NC_000014.7:g.94155550G>A | NCBI36 |
| NG_012879.1:g.12084G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.909G>A MANE Select | ENSP00000376793.3:p.Leu303= | |
| ENST00000393078.4:c.909G>A | ENSP00000376793.3:p.Leu303= | |
| ENST00000393080.8:c.909G>A | ENSP00000376795.4:p.Leu303= | |
| ENST00000467132.5:c.909G>A | ENSP00000450540.1:p.Leu303= | |
| ENST00000482740.2:c.255G>A | ENSP00000451119.1:p.Leu85= | |
| ENST00000553947.1:c.1872G>A | ||
| ENST00000555820.1:c.909G>A | ENSP00000452246.3:p.Leu303= | |
| ENST00000556388.1:n.58-2881G>A | ||
| ENST00000556968.2:c.644-2881G>A | ENSP00000452476.1:n.644-2881G>A | |
| ENST00000621603.1:c.128G>A | ||
| NM_001085.4:c.909G>A | NP_001076.2:p.Leu303= | |
| NM_001085.5:c.909G>A MANE Select | NP_001076.2:p.Leu303= | |
| NM_001384672.1:c.909G>A | NP_001371601.1:p.Leu303= | |
| NM_001384673.1:c.909G>A | NP_001371602.1:p.Leu303= | |
| NM_001384674.1:c.909G>A | NP_001371603.1:p.Leu303= |