Linked Data
ClinVar Variation Id:
2628907
ClinVar RCV Id:
RCV003399711
dbSNP Id:
rs141506393
ExAC:
13:115090368 A / G
gnomAD v3:
13-114324893-A-G
gnomAD v4:
13-114324893-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.114324893A>G , CM000675.2:g.114324893A>G | GRCh38 |
| NC_000013.10:g.115090368A>G , CM000675.1:g.115090368A>G | GRCh37 |
| NC_000013.9:g.114108470A>G | NCBI36 |
| NG_051829.1:g.15559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643483.2:c.1051A>G | ENSP00000496699.1:p.Ile351Val | |
| ENST00000644294.2:c.1051A>G | ENSP00000495985.2:p.Ile351Val | |
| ENST00000645174.2:c.1051A>G | ENSP00000494031.2:p.Ile351Val | |
| ENST00000700527.1:c.1051A>G | ENSP00000515032.1:p.Ile351Val | |
| ENST00000700528.1:c.1051A>G | ENSP00000515033.1:p.Ile351Val | |
| ENST00000361283.4:c.1051A>G MANE Select | ENSP00000354730.1:p.Ile351Val | |
| ENST00000643483.1:c.1051A>G | ENSP00000496699.1:p.Ile351Val | |
| ENST00000646155.1:n.123+10250A>G | ||
| ENST00000646956.1:n.285+3661A>G | ||
| ENST00000361283.2:c.1051A>G | ENSP00000354730.1:p.Ile351Val | |
| NM_001164144.1:c.1051A>G | NP_001157616.1:p.Ile351Val | |
| NM_001164145.1:c.1051A>G | NP_001157617.1:p.Ile351Val | |
| NM_032436.2:c.1051A>G | NP_115812.1:p.Ile351Val | |
| NM_001164144.2:c.1051A>G | NP_001157616.1:p.Ile351Val | |
| NM_001164145.2:c.1051A>G | NP_001157617.1:p.Ile351Val | |
| NM_032436.3:c.1051A>G | NP_115812.1:p.Ile351Val | |
| NM_032436.4:c.1051A>G MANE Select | NP_115812.1:p.Ile351Val | |
| NM_001164144.3:c.1051A>G | NP_001157616.1:p.Ile351Val | |
| NM_001164145.3:c.1051A>G | NP_001157617.1:p.Ile351Val |