Linked Data
ClinVar Variation Id:
1911556
ClinVar RCV Id:
RCV002578615
dbSNP Id:
rs1346438531
gnomAD v2:
6-74354291-T-C
gnomAD v4:
6-73644568-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644568T>C , CM000668.2:g.73644568T>C | GRCh38 |
| NC_000006.11:g.74354291T>C , CM000668.1:g.74354291T>C | GRCh37 |
| NC_000006.10:g.74411012T>C | NCBI36 |
| NG_008272.1:g.14447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.130A>G MANE Select | ENSP00000348019.5:p.Ile44Val | |
| ENST00000355773.5:c.130A>G | ENSP00000348019.5:p.Ile44Val | |
| NM_012434.4:c.130A>G | NP_036566.1:p.Ile44Val | |
| XM_005248710.2:c.79A>G | XP_005248767.1:p.Ile27Val | |
| XM_005248711.1:c.-69A>G | XP_005248768.1:n.-69A>G | |
| XM_011535750.1:c.130A>G | XP_011534052.1:p.Ile44Val | |
| XM_011535751.1:c.130A>G | XP_011534053.1:p.Ile44Val | |
| NM_012434.5:c.130A>G MANE Select | NP_036566.1:p.Ile44Val | |
| NM_001382629.1:c.61-2644A>G | NP_001369558.1:n.61-2644A>G | |
| NM_001382630.1:c.130A>G | NP_001369559.1:p.Ile44Val | |
| NM_001382631.1:c.151A>G | NP_001369560.1:p.Ile51Val | |
| NM_001382632.1:c.130A>G | NP_001369561.1:p.Ile44Val | |
| NM_001382633.1:c.130A>G | NP_001369562.1:p.Ile44Val | |
| NM_001382634.1:c.130A>G | NP_001369563.1:p.Ile44Val | |
| NM_001382635.1:c.130A>G | NP_001369564.1:p.Ile44Val | |
| NM_001382636.1:c.61-2644A>G | NP_001369565.1:n.61-2644A>G |