Linked Data
ClinVar Variation Id:
475575
dbSNP Id:
rs5997814
ExAC:
22:31332494 G / A
gnomAD v2:
22-31332494-G-A
gnomAD v3:
22-30936507-G-A
gnomAD v4:
22-30936507-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30936507G>A , CM000684.2:g.30936507G>A | GRCh38 |
| NC_000022.10:g.31332494G>A , CM000684.1:g.31332494G>A | GRCh37 |
| NC_000022.9:g.29662494G>A | NCBI36 |
| NG_046752.1:g.36991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.1737+4C>T MANE Select | ENSP00000380763.2:n.1737+4C>T | |
| ENST00000674576.1:n.3183+4C>T | ||
| ENST00000675317.1:n.158+4C>T | ||
| ENST00000675601.1:n.1579+4C>T | ||
| ENST00000676215.1:n.2580+4C>T | ||
| ENST00000215862.8:c.1551+4C>T | ENSP00000215862.4:n.1551+4C>T | |
| ENST00000397641.7:c.1737+4C>T | ENSP00000380763.2:n.1737+4C>T | |
| NM_001303256.1:c.1737+4C>T | NP_001290185.1:n.1737+4C>T | |
| NM_001303257.1:c.1737+4C>T | NP_001290186.1:n.1737+4C>T | |
| NM_014941.2:c.1551+4C>T | NP_055756.1:n.1551+4C>T | |
| XM_011530003.1:c.1761+4C>T | XP_011528305.1:n.1761+4C>T | |
| XM_011530004.1:c.1752+4C>T | XP_011528306.1:n.1752+4C>T | |
| XM_011530005.1:c.1761+4C>T | XP_011528307.1:n.1761+4C>T | |
| XM_011530006.1:c.1602+4C>T | XP_011528308.1:n.1602+4C>T | |
| NM_001303256.2:c.1737+4C>T | NP_001290185.1:n.1737+4C>T | |
| NM_001303257.2:c.1737+4C>T | NP_001290186.1:n.1737+4C>T | |
| NM_014941.3:c.1551+4C>T | NP_055756.1:n.1551+4C>T | |
| XM_011530004.2:c.1752+4C>T | XP_011528306.1:n.1752+4C>T | |
| XM_017028667.2:c.1752+4C>T | XP_016884156.1:n.1752+4C>T | |
| NM_001303256.3:c.1737+4C>T MANE Select | NP_001290185.1:n.1737+4C>T |