Linked Data
ClinVar Variation Id:
318057
ClinVar RCV Id:
RCV000350098
dbSNP Id:
rs375979698
ExAC:
16:1576773 C / T
gnomAD v2:
16-1576773-C-T
gnomAD v3:
16-1526772-C-T
gnomAD v4:
16-1526772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1526772C>T , CM000678.2:g.1526772C>T | GRCh38 |
| NC_000016.9:g.1576773C>T , CM000678.1:g.1576773C>T | GRCh37 |
| NC_000016.8:g.1516774C>T | NCBI36 |
| NG_032783.1:g.90337G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.2424G>A MANE Select | ENSP00000406012.2:p.Ala808= | |
| ENST00000361339.9:c.6G>A | ENSP00000354895.5:p.Ala2= | |
| ENST00000397417.6:c.*976G>A | ENSP00000380562.2:n.*976G>A | |
| ENST00000426508.6:c.2424G>A | ENSP00000406012.2:p.Ala808= | |
| ENST00000565298.5:n.1112G>A | ||
| ENST00000566818.1:n.253G>A | ||
| NM_014714.3:c.2424G>A | NP_055529.2:p.Ala808= | |
| XM_006720989.2:c.2424G>A | XP_006721052.1:p.Ala808= | |
| XM_006720990.2:c.2424G>A | XP_006721053.1:p.Ala808= | |
| XM_006720991.2:c.2424G>A | XP_006721054.1:p.Ala808= | |
| XM_006720992.2:c.57G>A | XP_006721055.1:p.Ala19= | |
| XM_011522766.1:c.2178G>A | XP_011521068.1:p.Ala726= | |
| XM_011522767.1:c.1449G>A | XP_011521069.1:p.Ala483= | |
| XM_006720990.3:c.2424G>A | XP_006721053.1:p.Ala808= | |
| XM_006720991.3:c.2424G>A | XP_006721054.1:p.Ala808= | |
| XM_006720992.3:c.57G>A | XP_006721055.1:p.Ala19= | |
| XM_011522766.3:c.2178G>A | XP_011521068.1:p.Ala726= | |
| XM_011522767.2:c.1449G>A | XP_011521069.1:p.Ala483= | |
| XM_017023910.1:c.2424G>A | XP_016879399.1:p.Ala808= | |
| XM_017023911.1:c.609G>A | XP_016879400.1:p.Ala203= | |
| NM_014714.4:c.2424G>A MANE Select | NP_055529.2:p.Ala808= |