Linked Data
ClinVar Variation Id:
197599
dbSNP Id:
rs200528472
ExAC:
5:90021438 A / G
gnomAD v2:
5-90021438-A-G
gnomAD v3:
5-90725621-A-G
gnomAD v4:
5-90725621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90725621A>G , CM000667.2:g.90725621A>G | GRCh38 |
| NC_000005.9:g.90021438A>G , CM000667.1:g.90021438A>G | GRCh37 |
| NC_000005.8:g.90057194A>G | NCBI36 |
| NG_007083.1:g.171822A>G | |
| NG_007083.2:g.201278A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10126A>G MANE Select | ENSP00000384582.2:p.Ile3376Val | |
| ENST00000639431.1:c.265+49412A>G | ENSP00000491057.1:n.265+49412A>G | |
| ENST00000640374.1:n.3270A>G | ||
| ENST00000640464.1:n.545A>G | ||
| ENST00000405460.6:c.10126A>G | ENSP00000384582.2:p.Ile3376Val | |
| ENST00000509621.1:c.2823A>G | ||
| NM_032119.3:c.10126A>G | NP_115495.3:p.Ile3376Val | |
| NR_003149.1:n.10139A>G | ||
| XM_011543675.1:c.10123A>G | XP_011541977.1:p.Ile3375Val | |
| XM_011543676.1:c.10045A>G | XP_011541978.1:p.Ile3349Val | |
| XM_011543677.1:c.7429A>G | XP_011541979.1:p.Ile2477Val | |
| XM_011543678.1:c.10126A>G | XP_011541980.1:p.Ile3376Val | |
| XM_011543679.1:c.10126A>G | XP_011541981.1:p.Ile3376Val | |
| XR_948560.1:n.272-9812T>C | ||
| NM_032119.4:c.10126A>G MANE Select | NP_115495.3:p.Ile3376Val | |
| XM_017009963.2:c.10147A>G | XP_016865452.1:p.Ile3383Val | |
| XM_017009964.2:c.10144A>G | XP_016865453.1:p.Ile3382Val | |
| XM_017009965.1:c.10144A>G | XP_016865454.1:p.Ile3382Val | |
| XM_017009966.2:c.10066A>G | XP_016865455.1:p.Ile3356Val | |
| XM_017009967.1:c.10051A>G | XP_016865456.1:p.Ile3351Val | |
| XM_017009968.2:c.10147A>G | XP_016865457.1:p.Ile3383Val | |
| XM_017009969.2:c.10147A>G | XP_016865458.1:p.Ile3383Val | |
| XM_017009970.2:c.10147A>G | XP_016865459.1:p.Ile3383Val | |
| XM_017009971.2:c.10147A>G | XP_016865460.1:p.Ile3383Val | |
| XM_017009972.1:c.3265A>G | XP_016865461.1:p.Ile1089Val | |
| XM_017009973.1:c.3244A>G | XP_016865462.1:p.Ile1082Val | |
| XM_017009974.2:c.10147A>G | XP_016865463.1:p.Ile3383Val | |
| XR_001742802.1:n.2523-9812T>C | ||
| NR_003149.2:n.10142A>G |