Linked Data
ClinVar Variation Id:
2079375
ClinVar RCV Id:
RCV002995326
dbSNP Id:
rs1030253516
gnomAD v2:
16-74670280-T-C
gnomAD v3:
16-74636382-T-C
gnomAD v4:
16-74636382-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74636382T>C , CM000678.2:g.74636382T>C | GRCh38 |
| NC_000016.9:g.74670280T>C , CM000678.1:g.74670280T>C | GRCh37 |
| NC_000016.8:g.73227781T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361070.9:c.1390A>G MANE Select | ENSP00000354361.4:p.Ile464Val | |
| ENST00000361070.8:c.1390A>G | ENSP00000354361.4:p.Ile464Val | |
| ENST00000571750.5:c.1390A>G | ENSP00000460049.1:p.Ile464Val | |
| NM_018124.3:c.1390A>G | NP_060594.3:p.Ile464Val | |
| XM_005256021.3:c.1390A>G | XP_005256078.1:p.Ile464Val | |
| XM_005256022.3:c.1390A>G | XP_005256079.1:p.Ile464Val | |
| XM_006721228.2:c.1390A>G | XP_006721291.1:p.Ile464Val | |
| XM_011523191.1:c.1390A>G | XP_011521493.1:p.Ile464Val | |
| XM_005256021.4:c.1390A>G | XP_005256078.1:p.Ile464Val | |
| XM_005256022.4:c.1390A>G | XP_005256079.1:p.Ile464Val | |
| XM_006721228.3:c.1390A>G | XP_006721291.1:p.Ile464Val | |
| XM_011523191.3:c.1390A>G | XP_011521493.1:p.Ile464Val | |
| XM_017023391.1:c.1390A>G | XP_016878880.1:p.Ile464Val | |
| XM_017023392.1:c.1390A>G | XP_016878881.1:p.Ile464Val | |
| NM_018124.4:c.1390A>G MANE Select | NP_060594.3:p.Ile464Val | |
| NM_001370534.1:c.1390A>G | NP_001357463.1:p.Ile464Val | |
| NM_001370535.1:c.1390A>G | NP_001357464.1:p.Ile464Val | |
| NM_001370536.1:c.1390A>G | NP_001357465.1:p.Ile464Val | |
| NM_001370537.1:c.556A>G | NP_001357466.1:p.Ile186Val | |
| NM_001370539.1:c.556A>G | NP_001357468.1:p.Ile186Val | |
| NM_001370540.1:c.556A>G | NP_001357469.1:p.Ile186Val | |
| NM_001370542.1:c.556A>G | NP_001357471.1:p.Ile186Val | |
| NM_001370543.1:c.556A>G | NP_001357472.1:p.Ile186Val |