Linked Data
ClinVar Variation Id:
475591
ClinVar RCV Id:
RCV000541665
dbSNP Id:
rs372404658
ExAC:
22:31324087 G / A
gnomAD v2:
22-31324087-G-A
gnomAD v3:
22-30928100-G-A
gnomAD v4:
22-30928100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30928100G>A , CM000684.2:g.30928100G>A | GRCh38 |
| NC_000022.10:g.31324087G>A , CM000684.1:g.31324087G>A | GRCh37 |
| NC_000022.9:g.29654087G>A | NCBI36 |
| NG_046752.1:g.45398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.2949C>T MANE Select | ENSP00000380763.2:p.Ser983= | |
| ENST00000674576.1:n.4395C>T | ||
| ENST00000674585.1:n.634C>T | ||
| ENST00000675027.1:n.339C>T | ||
| ENST00000675317.1:n.1370C>T | ||
| ENST00000675402.1:n.581C>T | ||
| ENST00000675570.1:c.805C>T | ||
| ENST00000675601.1:n.2791C>T | ||
| ENST00000675779.1:c.297C>T | ENSP00000502216.1:p.Ser99= | |
| ENST00000675798.1:n.701C>T | ||
| ENST00000676215.1:n.3792C>T | ||
| ENST00000676263.1:n.1194C>T | ||
| ENST00000215862.8:c.2763C>T | ENSP00000215862.4:p.Ser921= | |
| ENST00000397641.7:c.2949C>T | ENSP00000380763.2:p.Ser983= | |
| ENST00000429468.5:c.129C>T | ENSP00000412685.1:p.Ser43= | |
| ENST00000445980.5:c.433C>T | ||
| NM_001303256.1:c.2949C>T | NP_001290185.1:p.Ser983= | |
| NM_001303257.1:c.2949C>T | NP_001290186.1:p.Ser983= | |
| NM_014941.2:c.2763C>T | NP_055756.1:p.Ser921= | |
| XM_011530003.1:c.2973C>T | XP_011528305.1:p.Ser991= | |
| XM_011530004.1:c.2964C>T | XP_011528306.1:p.Ser988= | |
| XM_011530005.1:c.2973C>T | XP_011528307.1:p.Ser991= | |
| XM_011530006.1:c.2814C>T | XP_011528308.1:p.Ser938= | |
| NM_001303256.2:c.2949C>T | NP_001290185.1:p.Ser983= | |
| NM_001303257.2:c.2949C>T | NP_001290186.1:p.Ser983= | |
| NM_014941.3:c.2763C>T | NP_055756.1:p.Ser921= | |
| XM_011530004.2:c.2964C>T | XP_011528306.1:p.Ser988= | |
| XM_017028667.2:c.2964C>T | XP_016884156.1:p.Ser988= | |
| NM_001303256.3:c.2949C>T MANE Select | NP_001290185.1:p.Ser983= |