Linked Data
ClinVar Variation Id:
427078
dbSNP Id:
rs1085307944
gnomAD v2:
2-15564492-C-A
gnomAD v3:
2-15424368-C-A
gnomAD v4:
2-15424368-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15424368C>A , CM000664.2:g.15424368C>A | GRCh38 |
| NC_000002.11:g.15564492C>A , CM000664.1:g.15564492C>A | GRCh37 |
| NC_000002.10:g.15481943C>A | NCBI36 |
| NG_032964.1:g.141981G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.621G>T | ||
| ENST00000700062.1:c.621G>T | ||
| ENST00000700065.1:n.2537G>T | ||
| ENST00000700066.1:c.2041G>T | ENSP00000514780.1:p.Val681Phe | |
| ENST00000281513.10:c.2524G>T MANE Select | ENSP00000281513.5:p.Val842Phe | |
| ENST00000281513.9:c.2524G>T | ENSP00000281513.5:p.Val842Phe | |
| ENST00000441755.5:c.25G>T | ENSP00000396501.1:p.Val9Phe | |
| ENST00000442506.5:c.27G>T | ||
| NM_015909.3:c.2524G>T | NP_056993.2:p.Val842Phe | |
| NR_052013.2:n.2568G>T | ||
| XM_011510357.1:c.2395G>T | XP_011508659.1:p.Val799Phe | |
| XM_011510358.1:c.2524G>T | XP_011508660.1:p.Val842Phe | |
| XM_011510359.1:c.1885G>T | XP_011508661.1:p.Val629Phe | |
| XM_011510360.1:c.325G>T | XP_011508662.1:p.Val109Phe | |
| XM_011510361.1:c.316G>T | XP_011508663.1:p.Val106Phe | |
| XM_011510357.2:c.2395G>T | XP_011508659.1:p.Val799Phe | |
| XM_011510358.2:c.2524G>T | XP_011508660.1:p.Val842Phe | |
| XM_011510360.2:c.325G>T | XP_011508662.1:p.Val109Phe | |
| XM_011510361.2:c.316G>T | XP_011508663.1:p.Val106Phe | |
| XM_017004317.1:c.2524G>T | XP_016859806.1:p.Val842Phe | |
| XM_024452961.1:c.1885G>T | XP_024308729.1:p.Val629Phe | |
| NM_015909.4:c.2524G>T MANE Select | NP_056993.2:p.Val842Phe | |
| NR_052013.3:n.2554G>T |