Linked Data
ClinVar Variation Id:
1526341
dbSNP Id:
rs201301518
ExAC:
22:31330753 G / A
gnomAD v2:
22-31330753-G-A
gnomAD v3:
22-30934766-G-A
gnomAD v4:
22-30934766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30934766G>A , CM000684.2:g.30934766G>A | GRCh38 |
| NC_000022.10:g.31330753G>A , CM000684.1:g.31330753G>A | GRCh37 |
| NC_000022.9:g.29660753G>A | NCBI36 |
| NG_046752.1:g.38732C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.2193+15C>T MANE Select | ENSP00000380763.2:n.2193+15C>T | |
| ENST00000674576.1:n.3639+15C>T | ||
| ENST00000675317.1:n.614+15C>T | ||
| ENST00000675601.1:n.2035+15C>T | ||
| ENST00000676215.1:n.3036+15C>T | ||
| ENST00000676263.1:n.438+15C>T | ||
| ENST00000215862.8:c.2007+15C>T | ENSP00000215862.4:n.2007+15C>T | |
| ENST00000397641.7:c.2193+15C>T | ENSP00000380763.2:n.2193+15C>T | |
| NM_001303256.1:c.2193+15C>T | NP_001290185.1:n.2193+15C>T | |
| NM_001303257.1:c.2193+15C>T | NP_001290186.1:n.2193+15C>T | |
| NM_014941.2:c.2007+15C>T | NP_055756.1:n.2007+15C>T | |
| XM_011530003.1:c.2217+15C>T | XP_011528305.1:n.2217+15C>T | |
| XM_011530004.1:c.2208+15C>T | XP_011528306.1:n.2208+15C>T | |
| XM_011530005.1:c.2217+15C>T | XP_011528307.1:n.2217+15C>T | |
| XM_011530006.1:c.2058+15C>T | XP_011528308.1:n.2058+15C>T | |
| NM_001303256.2:c.2193+15C>T | NP_001290185.1:n.2193+15C>T | |
| NM_001303257.2:c.2193+15C>T | NP_001290186.1:n.2193+15C>T | |
| NM_014941.3:c.2007+15C>T | NP_055756.1:n.2007+15C>T | |
| XM_011530004.2:c.2208+15C>T | XP_011528306.1:n.2208+15C>T | |
| XM_017028667.2:c.2208+15C>T | XP_016884156.1:n.2208+15C>T | |
| NM_001303256.3:c.2193+15C>T MANE Select | NP_001290185.1:n.2193+15C>T |