Linked Data
ClinVar Variation Id:
470693
ClinVar RCV Id:
RCV001368774
dbSNP Id:
rs758377163
ExAC:
5:16483574 C / A
gnomAD v2:
5-16483574-C-A
gnomAD v3:
5-16483465-C-A
gnomAD v4:
5-16483465-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16483465C>A , CM000667.2:g.16483465C>A | GRCh38 |
| NC_000005.9:g.16483574C>A , CM000667.1:g.16483574C>A | GRCh37 |
| NC_000005.8:g.16536574C>A | NCBI36 |
| NG_016644.2:g.138545G>T , LRG_363:g.138545G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509977.2:n.114G>T | ||
| ENST00000510362.6:c.-60G>T | ENSP00000425089.2:n.-60G>T | |
| ENST00000682033.1:c.127-8231G>T | ||
| ENST00000682142.1:c.163G>T | ENSP00000506804.1:p.Val55Phe | |
| ENST00000682229.1:c.622G>T | ENSP00000507342.1:p.Val208Phe | |
| ENST00000682564.1:c.466G>T | ENSP00000508099.1:p.Val156Phe | |
| ENST00000682628.1:c.-60G>T | ENSP00000507536.1:n.-60G>T | |
| ENST00000682982.1:n.489G>T | ||
| ENST00000683045.1:n.492G>T | ||
| ENST00000683130.1:c.36-2372G>T | ENSP00000507709.1:n.36-2372G>T | |
| ENST00000683414.1:c.-60G>T | ENSP00000508335.1:n.-60G>T | |
| ENST00000683527.1:c.466G>T | ENSP00000507253.1:p.Val156Phe | |
| ENST00000683539.1:c.-60G>T | ENSP00000507466.1:n.-60G>T | |
| ENST00000684456.1:c.-398-4478G>T | ENSP00000508060.1:n.-398-4478G>T | |
| ENST00000684521.1:c.328G>T | ENSP00000507521.1:p.Val110Phe | |
| ENST00000684695.1:n.484G>T | ||
| ENST00000306320.10:c.466G>T MANE Select | ENSP00000304642.9:p.Val156Phe | |
| ENST00000306320.9:c.466G>T | ENSP00000304642.9:p.Val156Phe | |
| ENST00000399793.6:c.43G>T | ENSP00000382691.2:p.Val15Phe | |
| ENST00000506441.1:n.117G>T | ||
| ENST00000509977.1:n.102G>T | ||
| NM_001034850.2:c.466G>T , LRG_363t1:c.466G>T | NP_001030022.1:p.Val156Phe | |
| NM_019000.4:c.43G>T | NP_061873.2:p.Val15Phe | |
| XM_011514053.1:c.586G>T | XP_011512355.1:p.Val196Phe | |
| XM_011514054.1:c.163G>T | XP_011512356.1:p.Val55Phe | |
| XM_011514055.1:c.67G>T | XP_011512357.1:p.Val23Phe | |
| XM_011514053.3:c.586G>T | XP_011512355.1:p.Val196Phe | |
| XM_011514054.2:c.163G>T | XP_011512356.1:p.Val55Phe | |
| XM_011514055.3:c.67G>T | XP_011512357.1:p.Val23Phe | |
| XM_024446117.1:c.-60G>T | XP_024301885.1:n.-60G>T | |
| XM_024446118.1:c.-60G>T | XP_024301886.1:n.-60G>T | |
| NM_001034850.3:c.466G>T MANE Select | NP_001030022.1:p.Val156Phe | |
| NM_019000.5:c.43G>T | NP_061873.2:p.Val15Phe |