Linked Data
ClinVar Variation Id:
245
dbSNP Id:
rs794728013
gnomAD v2:
22-43023696-T-G
gnomAD v3:
22-42627690-T-G
gnomAD v4:
22-42627690-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42627690T>G , CM000684.2:g.42627690T>G | GRCh38 |
| NC_000022.10:g.43023696T>G , CM000684.1:g.43023696T>G | GRCh37 |
| NC_000022.9:g.41353640T>G | NCBI36 |
| NG_012194.1:g.26710A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.596-2A>C | ENSP00000354468.5:n.596-2A>C | |
| ENST00000402438.6:c.395-2A>C | ENSP00000385679.1:n.395-2A>C | |
| ENST00000407332.6:c.482-2A>C | ENSP00000384457.2:n.482-2A>C | |
| ENST00000407623.8:c.395-2A>C | ENSP00000384834.3:n.395-2A>C | |
| ENST00000438270.2:c.395-2A>C | ENSP00000403439.2:n.395-2A>C | |
| ENST00000684963.1:n.2202A>C | ||
| ENST00000686523.1:c.*413-2A>C | ENSP00000508940.1:n.*413-2A>C | |
| ENST00000687183.1:n.525-2A>C | ||
| ENST00000687198.1:c.395-2A>C | ENSP00000508492.1:n.395-2A>C | |
| ENST00000688117.1:c.563-2A>C | ENSP00000509015.1:n.563-2A>C | |
| ENST00000688244.1:c.333+3192A>C | ENSP00000510355.1:n.333+3192A>C | |
| ENST00000689001.1:n.871-2A>C | ||
| ENST00000689195.1:c.464-301A>C | ENSP00000509895.1:n.464-301A>C | |
| ENST00000689239.1:n.631-2A>C | ||
| ENST00000689795.1:n.626-2A>C | ||
| ENST00000690835.1:c.464-2A>C | ENSP00000509038.1:n.464-2A>C | |
| ENST00000690993.1:n.1002A>C | ||
| ENST00000691295.1:c.334-2A>C | ENSP00000508706.1:n.334-2A>C | |
| ENST00000691918.1:c.443-2A>C | ENSP00000509525.1:n.443-2A>C | |
| ENST00000692152.1:c.395-2A>C | ENSP00000509317.1:n.395-2A>C | |
| ENST00000692344.1:n.949A>C | ||
| ENST00000693363.1:c.464-2A>C | ENSP00000510411.1:n.464-2A>C | |
| ENST00000693367.1:c.464-2A>C | ENSP00000508815.1:n.464-2A>C | |
| ENST00000693639.1:c.457-2A>C | ENSP00000510223.1:n.457-2A>C | |
| ENST00000693646.1:c.370-2A>C | ENSP00000508449.1:n.370-2A>C | |
| ENST00000352397.10:c.464-2A>C MANE Select | ENSP00000338461.6:n.464-2A>C | |
| ENST00000352397.9:c.464-2A>C | ENSP00000338461.6:n.464-2A>C | |
| ENST00000361740.8:c.563-2A>C | ENSP00000354468.4:n.563-2A>C | |
| ENST00000402438.5:c.395-2A>C | ENSP00000385679.1:n.395-2A>C | |
| ENST00000407332.5:c.395-2A>C | ENSP00000384457.1:n.395-2A>C | |
| ENST00000407623.7:c.395-2A>C | ENSP00000384834.3:n.395-2A>C | |
| ENST00000438270.1:c.395-2A>C | ENSP00000403439.1:n.395-2A>C | |
| ENST00000470741.1:n.2598-2A>C | ||
| NM_000398.6:c.464-2A>C | NP_000389.1:n.464-2A>C | |
| NM_001129819.2:c.395-2A>C | NP_001123291.1:n.395-2A>C | |
| NM_001171660.1:c.563-2A>C | NP_001165131.1:n.563-2A>C | |
| NM_001171661.1:c.395-2A>C | NP_001165132.1:n.395-2A>C | |
| NM_007326.4:c.395-2A>C | NP_015565.1:n.395-2A>C | |
| NM_000398.7:c.464-2A>C MANE Select | NP_000389.1:n.464-2A>C | |
| NM_001171660.2:c.563-2A>C | NP_001165131.1:n.563-2A>C |