Linked Data
ClinVar Variation Id:
2664368
dbSNP Id:
rs757978639
ExAC:
7:44189582 T / C
gnomAD v2:
7-44189582-T-C
gnomAD v4:
7-44149983-T-C
ERepo:
CA4239602/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149983T>C , CM000669.2:g.44149983T>C | GRCh38 |
| NC_000007.13:g.44189582T>C , CM000669.1:g.44189582T>C | GRCh37 |
| NC_000007.12:g.44156107T>C | NCBI36 |
| NG_008847.1:g.44441A>G | |
| NG_008847.2:g.53188A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*563A>G | ENSP00000379142.4:n.*563A>G | |
| ENST00000616242.5:c.565A>G | ENSP00000482149.2:p.Ile189Val | |
| ENST00000682635.1:n.1051A>G | ||
| ENST00000345378.7:c.568A>G | ENSP00000223366.2:p.Ile190Val | |
| ENST00000403799.8:c.565A>G MANE Select | ENSP00000384247.3:p.Ile189Val | |
| ENST00000671824.1:c.565A>G | ENSP00000500264.1:p.Ile189Val | |
| ENST00000673284.1:c.565A>G | ENSP00000499852.1:p.Ile189Val | |
| ENST00000345378.6:c.568A>G | ENSP00000223366.2:p.Ile190Val | |
| ENST00000395796.7:c.562A>G | ENSP00000379142.3:p.Ile188Val | |
| ENST00000403799.7:c.565A>G | ENSP00000384247.3:p.Ile189Val | |
| ENST00000437084.1:c.514A>G | ENSP00000402840.1:p.Ile172Val | |
| ENST00000616242.4:c.562A>G | ENSP00000482149.1:p.Ile188Val | |
| NM_000162.3:c.565A>G | NP_000153.1:p.Ile189Val | |
| NM_033507.1:c.568A>G | NP_277042.1:p.Ile190Val | |
| NM_033508.1:c.562A>G | NP_277043.1:p.Ile188Val | |
| NM_000162.4:c.565A>G | NP_000153.1:p.Ile189Val | |
| NM_001354800.1:c.565A>G | NP_001341729.1:p.Ile189Val | |
| NM_033507.2:c.568A>G | NP_277042.1:p.Ile190Val | |
| NM_033508.2:c.562A>G | NP_277043.1:p.Ile188Val | |
| NM_000162.5:c.565A>G MANE Select | NP_000153.1:p.Ile189Val | |
| NM_033507.3:c.568A>G | NP_277042.1:p.Ile190Val | |
| NM_033508.3:c.562A>G | NP_277043.1:p.Ile188Val |