Linked Data
ClinVar Variation Id:
475576
dbSNP Id:
rs146972491
ExAC:
22:31331279 G / A
gnomAD v2:
22-31331279-G-A
gnomAD v3:
22-30935292-G-A
gnomAD v4:
22-30935292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30935292G>A , CM000684.2:g.30935292G>A | GRCh38 |
| NC_000022.10:g.31331279G>A , CM000684.1:g.31331279G>A | GRCh37 |
| NC_000022.9:g.29661279G>A | NCBI36 |
| NG_046752.1:g.38206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.1768C>T MANE Select | ENSP00000380763.2:p.Leu590= | |
| ENST00000674576.1:n.3214C>T | ||
| ENST00000675317.1:n.189C>T | ||
| ENST00000675601.1:n.1610C>T | ||
| ENST00000676215.1:n.2611C>T | ||
| ENST00000215862.8:c.1582C>T | ENSP00000215862.4:p.Leu528= | |
| ENST00000397641.7:c.1768C>T | ENSP00000380763.2:p.Leu590= | |
| NM_001303256.1:c.1768C>T | NP_001290185.1:p.Leu590= | |
| NM_001303257.1:c.1768C>T | NP_001290186.1:p.Leu590= | |
| NM_014941.2:c.1582C>T | NP_055756.1:p.Leu528= | |
| XM_011530003.1:c.1792C>T | XP_011528305.1:p.Leu598= | |
| XM_011530004.1:c.1783C>T | XP_011528306.1:p.Leu595= | |
| XM_011530005.1:c.1792C>T | XP_011528307.1:p.Leu598= | |
| XM_011530006.1:c.1633C>T | XP_011528308.1:p.Leu545= | |
| NM_001303256.2:c.1768C>T | NP_001290185.1:p.Leu590= | |
| NM_001303257.2:c.1768C>T | NP_001290186.1:p.Leu590= | |
| NM_014941.3:c.1582C>T | NP_055756.1:p.Leu528= | |
| XM_011530004.2:c.1783C>T | XP_011528306.1:p.Leu595= | |
| XM_017028667.2:c.1783C>T | XP_016884156.1:p.Leu595= | |
| NM_001303256.3:c.1768C>T MANE Select | NP_001290185.1:p.Leu590= |