Linked Data
dbSNP Id:
rs770312813
ExAC:
22:43019930 G / A
gnomAD v2:
22-43019930-G-A
gnomAD v4:
22-42623924-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623924G>A , CM000684.2:g.42623924G>A | GRCh38 |
| NC_000022.10:g.43019930G>A , CM000684.1:g.43019930G>A | GRCh37 |
| NC_000022.9:g.41349874G>A | NCBI36 |
| NG_012194.1:g.30476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.766-36C>T | ENSP00000354468.5:n.766-36C>T | |
| ENST00000402438.6:c.565-36C>T | ENSP00000385679.1:n.565-36C>T | |
| ENST00000407332.6:c.652-36C>T | ENSP00000384457.2:n.652-36C>T | |
| ENST00000407623.8:c.565-36C>T | ENSP00000384834.3:n.565-36C>T | |
| ENST00000617178.5:c.171-36C>T | ||
| ENST00000684963.1:n.2374-36C>T | ||
| ENST00000685184.1:n.190C>T | ||
| ENST00000686523.1:c.*583-36C>T | ENSP00000508940.1:n.*583-36C>T | |
| ENST00000687183.1:n.910-36C>T | ||
| ENST00000687198.1:c.565-36C>T | ENSP00000508492.1:n.565-36C>T | |
| ENST00000688117.1:c.733-36C>T | ENSP00000509015.1:n.733-36C>T | |
| ENST00000688244.1:c.334-36C>T | ENSP00000510355.1:n.334-36C>T | |
| ENST00000689001.1:n.1256-36C>T | ||
| ENST00000689195.1:c.550-36C>T | ENSP00000509895.1:n.550-36C>T | |
| ENST00000689239.1:n.801-36C>T | ||
| ENST00000689795.1:n.895-36C>T | ||
| ENST00000690835.1:c.*13-36C>T | ENSP00000509038.1:n.*13-36C>T | |
| ENST00000690993.1:n.1389-36C>T | ||
| ENST00000691295.1:c.*117-36C>T | ENSP00000508706.1:n.*117-36C>T | |
| ENST00000691918.1:c.924-36C>T | ENSP00000509525.1:n.924-36C>T | |
| ENST00000692152.1:c.565-36C>T | ENSP00000509317.1:n.565-36C>T | |
| ENST00000692344.1:n.1121-36C>T | ||
| ENST00000693363.1:c.676-36C>T | ENSP00000510411.1:n.676-36C>T | |
| ENST00000693367.1:c.634-36C>T | ENSP00000508815.1:n.634-36C>T | |
| ENST00000693639.1:c.627-36C>T | ENSP00000510223.1:n.627-36C>T | |
| ENST00000693646.1:c.540-36C>T | ENSP00000508449.1:n.540-36C>T | |
| ENST00000352397.10:c.634-36C>T MANE Select | ENSP00000338461.6:n.634-36C>T | |
| ENST00000352397.9:c.634-36C>T | ENSP00000338461.6:n.634-36C>T | |
| ENST00000361740.8:c.733-36C>T | ENSP00000354468.4:n.733-36C>T | |
| ENST00000402438.5:c.565-36C>T | ENSP00000385679.1:n.565-36C>T | |
| ENST00000407332.5:c.565-36C>T | ENSP00000384457.1:n.565-36C>T | |
| ENST00000407623.7:c.565-36C>T | ENSP00000384834.3:n.565-36C>T | |
| ENST00000470741.1:n.2768-36C>T | ||
| NM_000398.6:c.634-36C>T | NP_000389.1:n.634-36C>T | |
| NM_001129819.2:c.565-36C>T | NP_001123291.1:n.565-36C>T | |
| NM_001171660.1:c.733-36C>T | NP_001165131.1:n.733-36C>T | |
| NM_001171661.1:c.565-36C>T | NP_001165132.1:n.565-36C>T | |
| NM_007326.4:c.565-36C>T | NP_015565.1:n.565-36C>T | |
| NM_000398.7:c.634-36C>T MANE Select | NP_000389.1:n.634-36C>T | |
| NM_001171660.2:c.733-36C>T | NP_001165131.1:n.733-36C>T |