Linked Data
ClinVar Variation Id:
2124096
ClinVar RCV Id:
RCV003035747
dbSNP Id:
rs7193541
ExAC:
16:74664743 T / C
gnomAD v2:
16-74664743-T-C
gnomAD v3:
16-74630845-T-C
gnomAD v4:
16-74630845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74630845T>C , CM000678.2:g.74630845T>C | GRCh38 |
| NC_000016.9:g.74664743T>C , CM000678.1:g.74664743T>C | GRCh37 |
| NC_000016.8:g.73222244T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361070.9:c.1690A>G MANE Select | ENSP00000354361.4:p.Ile564Val | |
| ENST00000361070.8:c.1690A>G | ENSP00000354361.4:p.Ile564Val | |
| ENST00000571750.5:c.1690A>G | ENSP00000460049.1:p.Ile564Val | |
| ENST00000575154.1:n.324A>G | ||
| NM_018124.3:c.1690A>G | NP_060594.3:p.Ile564Val | |
| XM_005256021.3:c.1690A>G | XP_005256078.1:p.Ile564Val | |
| XM_005256022.3:c.1690A>G | XP_005256079.1:p.Ile564Val | |
| XM_006721228.2:c.1577+1678A>G | XP_006721291.1:n.1577+1678A>G | |
| XM_011523191.1:c.1690A>G | XP_011521493.1:p.Ile564Val | |
| XM_005256021.4:c.1690A>G | XP_005256078.1:p.Ile564Val | |
| XM_005256022.4:c.1690A>G | XP_005256079.1:p.Ile564Val | |
| XM_006721228.3:c.1577+1678A>G | XP_006721291.1:n.1577+1678A>G | |
| XM_011523191.3:c.1690A>G | XP_011521493.1:p.Ile564Val | |
| XM_017023391.1:c.1690A>G | XP_016878880.1:p.Ile564Val | |
| XM_017023392.1:c.1577+1678A>G | XP_016878881.1:n.1577+1678A>G | |
| NM_018124.4:c.1690A>G MANE Select | NP_060594.3:p.Ile564Val | |
| NM_001370534.1:c.1690A>G | NP_001357463.1:p.Ile564Val | |
| NM_001370535.1:c.1690A>G | NP_001357464.1:p.Ile564Val | |
| NM_001370536.1:c.1577+1678A>G | NP_001357465.1:n.1577+1678A>G | |
| NM_001370537.1:c.856A>G | NP_001357466.1:p.Ile286Val | |
| NM_001370539.1:c.856A>G | NP_001357468.1:p.Ile286Val | |
| NM_001370540.1:c.856A>G | NP_001357469.1:p.Ile286Val | |
| NM_001370542.1:c.856A>G | NP_001357471.1:p.Ile286Val | |
| NM_001370543.1:c.856A>G | NP_001357472.1:p.Ile286Val |