Linked Data
ClinVar Variation Id:
340914
dbSNP Id:
rs752910574
ExAC:
22:24159051 C / T
gnomAD v2:
22-24159051-C-T
gnomAD v4:
22-23816864-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23816864C>T , CM000684.2:g.23816864C>T | GRCh38 |
| NC_000022.10:g.24159051C>T , CM000684.1:g.24159051C>T | GRCh37 |
| NC_000022.9:g.22489051C>T | NCBI36 |
| NG_009303.1:g.34902C>T , LRG_520:g.34902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.585C>T | ENSP00000263121.8:p.Ile195= | |
| ENST00000344921.11:c.750C>T | ENSP00000340883.6:p.Ile250= | |
| ENST00000407422.8:c.696C>T | ENSP00000383984.3:p.Ile232= | |
| ENST00000477836.2:n.1874C>T | ||
| ENST00000642275.1:n.971C>T | ||
| ENST00000644036.2:c.723C>T MANE Select | ENSP00000494049.2:p.Ile241= | |
| ENST00000644462.1:c.1441C>T | ENSP00000494283.1:n.1441C>T | |
| ENST00000644467.1:n.1517C>T | ||
| ENST00000644619.1:c.*790C>T | ENSP00000494695.1:n.*790C>T | |
| ENST00000646723.1:n.3069C>T | ||
| ENST00000646911.1:n.635C>T | ||
| ENST00000647057.1:c.*217C>T | ENSP00000494757.1:n.*217C>T | |
| ENST00000263121.11:c.723C>T | ENSP00000263121.7:p.Ile241= | |
| ENST00000344921.10:c.750C>T | ENSP00000340883.6:p.Ile250= | |
| ENST00000407082.3:c.585C>T | ENSP00000385226.3:p.Ile195= | |
| ENST00000407422.7:c.696C>T | ENSP00000383984.3:p.Ile232= | |
| ENST00000477836.1:n.496C>T | ||
| NM_001007468.1:c.696C>T | NP_001007469.1:p.Ile232= | |
| NM_003073.3:c.723C>T , LRG_520t1:c.723C>T | NP_003064.2:p.Ile241= | |
| XM_011530345.1:c.777C>T | XP_011528647.1:p.Ile259= | |
| XM_011530346.1:c.750C>T | XP_011528648.1:p.Ile250= | |
| NM_001007468.2:c.696C>T | NP_001007469.1:p.Ile232= | |
| NM_001317946.1:c.750C>T | NP_001304875.1:p.Ile250= | |
| NM_001362877.1:c.777C>T | NP_001349806.1:p.Ile259= | |
| NM_003073.4:c.723C>T | NP_003064.2:p.Ile241= | |
| NM_001007468.3:c.696C>T | NP_001007469.1:p.Ile232= | |
| NM_001317946.2:c.750C>T | NP_001304875.1:p.Ile250= | |
| NM_001362877.2:c.777C>T | NP_001349806.1:p.Ile259= | |
| NM_003073.5:c.723C>T MANE Select | NP_003064.2:p.Ile241= |