Linked Data
ClinVar Variation Id:
318058
ClinVar RCV Id:
RCV002480140
dbSNP Id:
rs748463111
ExAC:
16:1576774 G / A
gnomAD v2:
16-1576774-G-A
gnomAD v3:
16-1526773-G-A
gnomAD v4:
16-1526773-G-A
COSMIC:
COSM2127002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1526773G>A , CM000678.2:g.1526773G>A | GRCh38 |
| NC_000016.9:g.1576774G>A , CM000678.1:g.1576774G>A | GRCh37 |
| NC_000016.8:g.1516775G>A | NCBI36 |
| NG_032783.1:g.90336C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.2423C>T MANE Select | ENSP00000406012.2:p.Ala808Val | |
| ENST00000361339.9:c.5C>T | ENSP00000354895.5:p.Ala2Val | |
| ENST00000397417.6:c.*975C>T | ENSP00000380562.2:n.*975C>T | |
| ENST00000426508.6:c.2423C>T | ENSP00000406012.2:p.Ala808Val | |
| ENST00000565298.5:n.1111C>T | ||
| ENST00000566818.1:n.252C>T | ||
| NM_014714.3:c.2423C>T | NP_055529.2:p.Ala808Val | |
| XM_006720989.2:c.2423C>T | XP_006721052.1:p.Ala808Val | |
| XM_006720990.2:c.2423C>T | XP_006721053.1:p.Ala808Val | |
| XM_006720991.2:c.2423C>T | XP_006721054.1:p.Ala808Val | |
| XM_006720992.2:c.56C>T | XP_006721055.1:p.Ala19Val | |
| XM_011522766.1:c.2177C>T | XP_011521068.1:p.Ala726Val | |
| XM_011522767.1:c.1448C>T | XP_011521069.1:p.Ala483Val | |
| XM_006720990.3:c.2423C>T | XP_006721053.1:p.Ala808Val | |
| XM_006720991.3:c.2423C>T | XP_006721054.1:p.Ala808Val | |
| XM_006720992.3:c.56C>T | XP_006721055.1:p.Ala19Val | |
| XM_011522766.3:c.2177C>T | XP_011521068.1:p.Ala726Val | |
| XM_011522767.2:c.1448C>T | XP_011521069.1:p.Ala483Val | |
| XM_017023910.1:c.2423C>T | XP_016879399.1:p.Ala808Val | |
| XM_017023911.1:c.608C>T | XP_016879400.1:p.Ala203Val | |
| NM_014714.4:c.2423C>T MANE Select | NP_055529.2:p.Ala808Val |