Linked Data
ClinVar Variation Id:
3117754
ClinVar RCV Id:
RCV004410065
dbSNP Id:
rs1457384832
gnomAD v2:
3-182870264-T-C
gnomAD v3:
3-183152476-T-C
gnomAD v4:
3-183152476-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183152476T>C , CM000665.2:g.183152476T>C | GRCh38 |
| NC_000003.11:g.182870264T>C , CM000665.1:g.182870264T>C | GRCh37 |
| NC_000003.10:g.184352958T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265598.8:c.787A>G MANE Select | ENSP00000265598.3:p.Ile263Val | |
| ENST00000265598.7:c.787A>G | ENSP00000265598.3:p.Ile263Val | |
| ENST00000466939.1:c.715A>G | ENSP00000418912.1:p.Ile239Val | |
| NM_014398.3:c.787A>G | NP_055213.2:p.Ile263Val | |
| XM_005247360.3:c.787A>G | XP_005247417.1:p.Ile263Val | |
| XM_006713586.2:c.715A>G | XP_006713649.1:p.Ile239Val | |
| XM_011512688.1:c.787A>G | XP_011510990.1:p.Ile263Val | |
| XR_924123.1:n.847A>G | ||
| XR_924124.1:n.847A>G | ||
| XM_005247360.5:c.787A>G | XP_005247417.1:p.Ile263Val | |
| XM_006713586.3:c.715A>G | XP_006713649.1:p.Ile239Val | |
| XM_011512688.2:c.787A>G | XP_011510990.1:p.Ile263Val | |
| XM_024453453.1:c.715A>G | XP_024309221.1:p.Ile239Val | |
| NM_014398.4:c.787A>G MANE Select | NP_055213.2:p.Ile263Val |