Linked Data
ClinVar Variation Id:
2168558
ClinVar RCV Id:
RCV003082632
dbSNP Id:
rs761774988
ExAC:
20:31024173 A / T
gnomAD v2:
20-31024173-A-T
gnomAD v3:
20-32436370-A-T
gnomAD v4:
20-32436370-A-T
COSMIC:
COSM307359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436370A>T , CM000682.2:g.32436370A>T | GRCh38 |
| NC_000020.10:g.31024173A>T , CM000682.1:g.31024173A>T | GRCh37 |
| NC_000020.9:g.30487834A>T | NCBI36 |
| NG_027868.1:g.83027A>T , LRG_630:g.83027A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3658A>T MANE Select | ENSP00000364839.4:p.Ile1220Phe | |
| ENST00000646985.1:c.3475A>T | ENSP00000495053.1:p.Ile1159Phe | |
| ENST00000647223.1:n.6011A>T | ||
| ENST00000651418.1:c.1869+1789A>T | ENSP00000499150.1:n.1869+1789A>T | |
| ENST00000306058.9:c.3643A>T | ENSP00000305119.5:p.Ile1215Phe | |
| ENST00000375687.8:c.3658A>T | ENSP00000364839.4:p.Ile1220Phe | |
| ENST00000613218.4:c.3658A>T | ENSP00000480487.1:p.Ile1220Phe | |
| ENST00000620121.4:c.3658A>T | ENSP00000481978.1:p.Ile1220Phe | |
| NM_015338.5:c.3658A>T , LRG_630t1:c.3658A>T | NP_056153.2:p.Ile1220Phe | |
| XM_006723727.2:c.3655A>T | XP_006723790.1:p.Ile1219Phe | |
| XM_006723728.2:c.3628A>T | XP_006723791.1:p.Ile1210Phe | |
| XM_006723730.2:c.3574A>T | XP_006723793.1:p.Ile1192Phe | |
| XM_006723732.2:c.3475A>T | XP_006723795.1:p.Ile1159Phe | |
| XM_006723733.1:c.2974A>T | XP_006723796.1:p.Ile992Phe | |
| XM_011528647.1:c.3922A>T | XP_011526949.1:p.Ile1308Phe | |
| XM_011528648.1:c.3919A>T | XP_011526950.1:p.Ile1307Phe | |
| XM_011528649.1:c.3838A>T | XP_011526951.1:p.Ile1280Phe | |
| XM_011528650.1:c.3769A>T | XP_011526952.1:p.Ile1257Phe | |
| XM_011528651.1:c.3637A>T | XP_011526953.1:p.Ile1213Phe | |
| XM_011528652.1:c.3574A>T | XP_011526954.1:p.Ile1192Phe | |
| NM_001363734.1:c.3475A>T | NP_001350663.1:p.Ile1159Phe | |
| XM_006723727.3:c.3655A>T | XP_006723790.1:p.Ile1219Phe | |
| XM_006723728.3:c.3628A>T | XP_006723791.1:p.Ile1210Phe | |
| XM_006723730.4:c.3574A>T | XP_006723793.1:p.Ile1192Phe | |
| XM_011528648.3:c.3919A>T | XP_011526950.1:p.Ile1307Phe | |
| XM_011528652.2:c.3574A>T | XP_011526954.1:p.Ile1192Phe | |
| XM_017027704.1:c.3574A>T | XP_016883193.1:p.Ile1192Phe | |
| XM_017027705.1:c.3574A>T | XP_016883194.1:p.Ile1192Phe | |
| XM_017027706.1:c.3505A>T | XP_016883195.1:p.Ile1169Phe | |
| NM_015338.6:c.3658A>T MANE Select | NP_056153.2:p.Ile1220Phe |