Linked Data
ClinVar Variation Id:
1439335
ClinVar RCV Id:
RCV001936593
dbSNP Id:
rs1386131080
gnomAD v2:
16-1560968-C-T
gnomAD v4:
16-1510967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510967C>T , CM000678.2:g.1510967C>T | GRCh38 |
| NC_000016.9:g.1560968C>T , CM000678.1:g.1560968C>T | GRCh37 |
| NC_000016.8:g.1500969C>T | NCBI36 |
| NG_032783.1:g.106142G>A | |
| NG_050910.1:g.22624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4366G>A MANE Select | ENSP00000406012.2:p.Glu1456Lys | |
| ENST00000361339.9:c.1948G>A | ENSP00000354895.5:p.Glu650Lys | |
| ENST00000397417.6:c.*2804G>A | ENSP00000380562.2:n.*2804G>A | |
| ENST00000426508.6:c.4366G>A | ENSP00000406012.2:p.Glu1456Lys | |
| ENST00000565298.5:n.4190G>A | ||
| NM_014714.3:c.4366G>A | NP_055529.2:p.Glu1456Lys | |
| XM_006720989.2:c.4366G>A | XP_006721052.1:p.Glu1456Lys | |
| XM_006720990.2:c.4366G>A | XP_006721053.1:p.Glu1456Lys | |
| XM_006720991.2:c.4366G>A | XP_006721054.1:p.Glu1456Lys | |
| XM_006720992.2:c.1999G>A | XP_006721055.1:p.Glu667Lys | |
| XM_011522766.1:c.4120G>A | XP_011521068.1:p.Glu1374Lys | |
| XM_011522767.1:c.3391G>A | XP_011521069.1:p.Glu1131Lys | |
| XM_006720990.3:c.4366G>A | XP_006721053.1:p.Glu1456Lys | |
| XM_006720991.3:c.4366G>A | XP_006721054.1:p.Glu1456Lys | |
| XM_006720992.3:c.1999G>A | XP_006721055.1:p.Glu667Lys | |
| XM_011522766.3:c.4120G>A | XP_011521068.1:p.Glu1374Lys | |
| XM_011522767.2:c.3391G>A | XP_011521069.1:p.Glu1131Lys | |
| XM_017023910.1:c.4366G>A | XP_016879399.1:p.Glu1456Lys | |
| XM_017023911.1:c.2551G>A | XP_016879400.1:p.Glu851Lys | |
| NM_014714.4:c.4366G>A MANE Select | NP_055529.2:p.Glu1456Lys |