Linked Data
dbSNP Id:
rs755523353
ExAC:
4:187206886 A / G
gnomAD v2:
4-187206886-A-G
gnomAD v4:
4-186285732-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285732A>G , CM000666.2:g.186285732A>G | GRCh38 |
| NC_000004.11:g.187206886A>G , CM000666.1:g.187206886A>G | GRCh37 |
| NC_000004.10:g.187443880A>G | NCBI36 |
| NG_008051.1:g.24769A>G , LRG_583:g.24769A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1399A>G MANE Select | ENSP00000384957.2:p.Ile467Val | |
| ENST00000264691.4:c.95A>G | ||
| ENST00000264692.8:c.1237A>G | ENSP00000264692.5:p.Ile413Val | |
| ENST00000403665.6:c.1399A>G | ENSP00000384957.2:p.Ile467Val | |
| NM_000128.3:c.1399A>G , LRG_583t1:c.1399A>G | NP_000119.1:p.Ile467Val | |
| XM_005262821.2:c.1402A>G | XP_005262878.1:p.Ile468Val | |
| XM_005262822.2:c.1402A>G | XP_005262879.1:p.Ile468Val | |
| XM_005262823.2:c.1132A>G | XP_005262880.1:p.Ile378Val | |
| XM_005262824.1:c.1402A>G | XP_005262881.1:p.Ile468Val | |
| XM_006714137.1:c.1354A>G | XP_006714200.1:p.Ile452Val | |
| XR_938706.1:n.1807A>G | ||
| XR_938707.1:n.1807A>G | ||
| XM_005262821.4:c.1402A>G | XP_005262878.1:p.Ile468Val | |
| XM_005262822.4:c.1402A>G | XP_005262879.1:p.Ile468Val | |
| XM_005262823.4:c.1132A>G | XP_005262880.1:p.Ile378Val | |
| XM_006714137.3:c.1354A>G | XP_006714200.1:p.Ile452Val | |
| XR_001741172.2:n.1873A>G | ||
| NM_000128.4:c.1399A>G MANE Select | NP_000119.1:p.Ile467Val |