Linked Data
ClinVar Variation Id:
197554
dbSNP Id:
rs764987437
ExAC:
5:90020672 G / A
gnomAD v2:
5-90020672-G-A
gnomAD v3:
5-90724855-G-A
gnomAD v4:
5-90724855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90724855G>A , CM000667.2:g.90724855G>A | GRCh38 |
| NC_000005.9:g.90020672G>A , CM000667.1:g.90020672G>A | GRCh37 |
| NC_000005.8:g.90056428G>A | NCBI36 |
| NG_007083.1:g.171056G>A | |
| NG_007083.2:g.200512G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.9772G>A MANE Select | ENSP00000384582.2:p.Val3258Ile | |
| ENST00000639431.1:c.265+48646G>A | ENSP00000491057.1:n.265+48646G>A | |
| ENST00000640374.1:n.2916G>A | ||
| ENST00000640464.1:n.191G>A | ||
| ENST00000640779.1:c.4501G>A | ||
| ENST00000405460.6:c.9772G>A | ENSP00000384582.2:p.Val3258Ile | |
| ENST00000509621.1:c.2469G>A | ||
| NM_032119.3:c.9772G>A | NP_115495.3:p.Val3258Ile | |
| NR_003149.1:n.9785G>A | ||
| XM_011543675.1:c.9769G>A | XP_011541977.1:p.Val3257Ile | |
| XM_011543676.1:c.9691G>A | XP_011541978.1:p.Val3231Ile | |
| XM_011543677.1:c.7075G>A | XP_011541979.1:p.Val2359Ile | |
| XM_011543678.1:c.9772G>A | XP_011541980.1:p.Val3258Ile | |
| XM_011543679.1:c.9772G>A | XP_011541981.1:p.Val3258Ile | |
| XR_948560.1:n.272-9046C>T | ||
| NM_032119.4:c.9772G>A MANE Select | NP_115495.3:p.Val3258Ile | |
| XM_017009963.2:c.9793G>A | XP_016865452.1:p.Val3265Ile | |
| XM_017009964.2:c.9790G>A | XP_016865453.1:p.Val3264Ile | |
| XM_017009965.1:c.9790G>A | XP_016865454.1:p.Val3264Ile | |
| XM_017009966.2:c.9712G>A | XP_016865455.1:p.Val3238Ile | |
| XM_017009967.1:c.9697G>A | XP_016865456.1:p.Val3233Ile | |
| XM_017009968.2:c.9793G>A | XP_016865457.1:p.Val3265Ile | |
| XM_017009969.2:c.9793G>A | XP_016865458.1:p.Val3265Ile | |
| XM_017009970.2:c.9793G>A | XP_016865459.1:p.Val3265Ile | |
| XM_017009971.2:c.9793G>A | XP_016865460.1:p.Val3265Ile | |
| XM_017009972.1:c.2911G>A | XP_016865461.1:p.Val971Ile | |
| XM_017009973.1:c.2890G>A | XP_016865462.1:p.Val964Ile | |
| XM_017009974.2:c.9793G>A | XP_016865463.1:p.Val3265Ile | |
| XR_001742802.1:n.2523-9046C>T | ||
| NR_003149.2:n.9788G>A |