Linked Data
ClinVar Variation Id:
362553
dbSNP Id:
rs566914013
ExAC:
8:22020186 G / A
gnomAD v2:
8-22020186-G-A
gnomAD v3:
8-22162673-G-A
gnomAD v4:
8-22162673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22162673G>A , CM000670.2:g.22162673G>A | GRCh38 |
| NC_000008.10:g.22020186G>A , CM000670.1:g.22020186G>A | GRCh37 |
| NC_000008.9:g.22076131G>A | NCBI36 |
| NG_016968.1:g.6003G>A | |
| NG_029659.1:g.2534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679463.1:c.142G>A MANE Select | ENSP00000505152.1:p.Val48Met | |
| ENST00000318561.7:c.142G>A | ENSP00000316152.3:p.Val48Met | |
| ENST00000437090.6:c.142G>A | ENSP00000407931.2:p.Val48Met | |
| ENST00000518615.2:n.162G>A | ||
| ENST00000520605.5:c.43-407G>A | ENSP00000430266.1:n.43-407G>A | |
| ENST00000521315.5:c.142G>A | ENSP00000430410.1:p.Val48Met | |
| ENST00000522109.5:c.142G>A | ENSP00000429496.1:p.Val48Met | |
| ENST00000523296.1:c.43-407G>A | ENSP00000429619.1:n.43-407G>A | |
| ENST00000524255.5:c.43-407G>A | ENSP00000429552.1:n.43-407G>A | |
| ENST00000524318.3:n.934G>A | ||
| NM_001172357.1:c.142G>A | NP_001165828.1:p.Val48Met | |
| NM_001172410.1:c.142G>A | NP_001165881.1:p.Val48Met | |
| NM_003018.3:c.142G>A | NP_003009.2:p.Val48Met | |
| XM_006716379.2:c.142G>A | XP_006716442.1:p.Val48Met | |
| XM_006716380.2:c.142G>A | XP_006716443.1:p.Val48Met | |
| XM_011544612.1:c.43-407G>A | XP_011542914.1:n.43-407G>A | |
| XM_011544613.1:c.43-407G>A | XP_011542915.1:n.43-407G>A | |
| NM_001317778.1:c.142G>A | NP_001304707.1:p.Val48Met | |
| NM_001317779.1:c.43-407G>A | NP_001304708.1:n.43-407G>A | |
| NM_001317780.1:c.142G>A | NP_001304709.1:p.Val48Met | |
| XM_011544613.3:c.43-407G>A | XP_011542915.1:n.43-407G>A | |
| NM_001172357.2:c.142G>A | NP_001165828.1:p.Val48Met | |
| NM_001172410.2:c.142G>A | NP_001165881.1:p.Val48Met | |
| NM_001317778.2:c.142G>A MANE Select | NP_001304707.1:p.Val48Met | |
| NM_001317779.2:c.43-407G>A | NP_001304708.1:n.43-407G>A | |
| NM_001317780.2:c.142G>A | NP_001304709.1:p.Val48Met | |
| NM_003018.4:c.142G>A | NP_003009.2:p.Val48Met | |
| NM_001385653.1:c.142G>A | NP_001372582.1:p.Val48Met | |
| NM_001385654.1:c.142G>A | NP_001372583.1:p.Val48Met | |
| NM_001385655.1:c.142G>A | NP_001372584.1:p.Val48Met | |
| NM_001385656.1:c.142G>A | NP_001372585.1:p.Val48Met | |
| NM_001385657.1:c.142G>A | NP_001372586.1:p.Val48Met | |
| NM_001385658.1:c.142G>A | NP_001372587.1:p.Val48Met | |
| NM_001385659.1:c.142G>A | NP_001372588.1:p.Val48Met | |
| NM_001385660.1:c.43-407G>A | NP_001372589.1:n.43-407G>A |