Linked Data
dbSNP Id:
rs764437121
ExAC:
22:43024173 C / T
gnomAD v2:
22-43024173-C-T
gnomAD v3:
22-42628167-C-T
gnomAD v4:
22-42628167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42628167C>T , CM000684.2:g.42628167C>T | GRCh38 |
| NC_000022.10:g.43024173C>T , CM000684.1:g.43024173C>T | GRCh37 |
| NC_000022.9:g.41354117C>T | NCBI36 |
| NG_012194.1:g.26233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.448G>A | ENSP00000354468.5:p.Val150Ile | |
| ENST00000402438.6:c.379G>A | ENSP00000385679.1:p.Val127Ile | |
| ENST00000407332.6:c.466G>A | ENSP00000384457.2:p.Val156Ile | |
| ENST00000407623.8:c.379G>A | ENSP00000384834.3:p.Val127Ile | |
| ENST00000438270.2:c.379G>A | ENSP00000403439.2:p.Val127Ile | |
| ENST00000684963.1:n.1725G>A | ||
| ENST00000686129.1:c.379G>A | ENSP00000508623.1:p.Val127Ile | |
| ENST00000686523.1:c.*397G>A | ENSP00000508940.1:n.*397G>A | |
| ENST00000687183.1:n.509G>A | ||
| ENST00000687198.1:c.379G>A | ENSP00000508492.1:p.Val127Ile | |
| ENST00000688117.1:c.547G>A | ENSP00000509015.1:p.Val183Ile | |
| ENST00000688244.1:c.333+2715G>A | ENSP00000510355.1:n.333+2715G>A | |
| ENST00000689001.1:n.855G>A | ||
| ENST00000689195.1:c.448G>A | ENSP00000509895.1:p.Val150Ile | |
| ENST00000689239.1:n.615G>A | ||
| ENST00000689795.1:n.610G>A | ||
| ENST00000690835.1:c.448G>A | ENSP00000509038.1:p.Val150Ile | |
| ENST00000690993.1:n.525G>A | ||
| ENST00000691295.1:c.334-479G>A | ENSP00000508706.1:n.334-479G>A | |
| ENST00000691918.1:c.427G>A | ENSP00000509525.1:p.Val143Ile | |
| ENST00000692152.1:c.379G>A | ENSP00000509317.1:p.Val127Ile | |
| ENST00000692344.1:n.472G>A | ||
| ENST00000693157.1:c.368G>A | ENSP00000510610.1:n.368G>A | |
| ENST00000693363.1:c.448G>A | ENSP00000510411.1:p.Val150Ile | |
| ENST00000693367.1:c.448G>A | ENSP00000508815.1:p.Val150Ile | |
| ENST00000693639.1:c.441G>A | ENSP00000510223.1:p.Trp147Ter | |
| ENST00000693646.1:c.354G>A | ENSP00000508449.1:p.Trp118Ter | |
| ENST00000352397.10:c.448G>A MANE Select | ENSP00000338461.6:p.Val150Ile | |
| ENST00000352397.9:c.448G>A | ENSP00000338461.6:p.Val150Ile | |
| ENST00000361740.8:c.547G>A | ENSP00000354468.4:p.Val183Ile | |
| ENST00000402438.5:c.379G>A | ENSP00000385679.1:p.Val127Ile | |
| ENST00000407332.5:c.379G>A | ENSP00000384457.1:p.Val127Ile | |
| ENST00000407623.7:c.379G>A | ENSP00000384834.3:p.Val127Ile | |
| ENST00000438270.1:c.379G>A | ENSP00000403439.1:p.Val127Ile | |
| ENST00000470741.1:n.2582G>A | ||
| NM_000398.6:c.448G>A | NP_000389.1:p.Val150Ile | |
| NM_001129819.2:c.379G>A | NP_001123291.1:p.Val127Ile | |
| NM_001171660.1:c.547G>A | NP_001165131.1:p.Val183Ile | |
| NM_001171661.1:c.379G>A | NP_001165132.1:p.Val127Ile | |
| NM_007326.4:c.379G>A | NP_015565.1:p.Val127Ile | |
| NM_000398.7:c.448G>A MANE Select | NP_000389.1:p.Val150Ile | |
| NM_001171660.2:c.547G>A | NP_001165131.1:p.Val183Ile |