Linked Data
ClinVar Variation Id:
1326929
dbSNP Id:
rs759604286
ExAC:
22:41543950 G / A
gnomAD v2:
22-41543950-G-A
gnomAD v3:
22-41147946-G-A
gnomAD v4:
22-41147946-G-A
COSMIC:
COSM4104432
MutSpliceDB:
CA10252784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41147946G>A , CM000684.2:g.41147946G>A | GRCh38 |
| NC_000022.10:g.41543950G>A , CM000684.1:g.41543950G>A | GRCh37 |
| NC_000022.9:g.39873896G>A | NCBI36 |
| NG_009817.1:g.60337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*161G>A | ENSP00000515365.1:n.*161G>A | |
| ENST00000703545.1:c.2031G>A | ||
| ENST00000263253.9:c.2241G>A MANE Select | ENSP00000263253.7:p.Pro747= | |
| ENST00000674155.1:c.2163G>A | ENSP00000501078.1:p.Pro721= | |
| ENST00000263253.8:c.2241G>A | ENSP00000263253.7:p.Pro747= | |
| ENST00000634728.1:c.285G>A | ENSP00000488981.1:p.Pro95= | |
| NM_001429.3:c.2241G>A | NP_001420.2:p.Pro747= | |
| XM_006724165.2:c.2163G>A | XP_006724228.1:p.Pro721= | |
| NM_001362843.1:c.2163G>A | NP_001349772.1:p.Pro721= | |
| NM_001429.4:c.2241G>A MANE Select | NP_001420.2:p.Pro747= | |
| NM_001362843.2:c.2163G>A | NP_001349772.1:p.Pro721= |