Linked Data
ClinVar Variation Id:
1410504
dbSNP Id:
rs1724920020
gnomAD v3:
3-179219598-C-T
gnomAD v4:
3-179219598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179219598C>T , CM000665.2:g.179219598C>T | GRCh38 |
| NC_000003.11:g.178937386C>T , CM000665.1:g.178937386C>T | GRCh37 |
| NC_000003.10:g.180420080C>T | NCBI36 |
| NG_012113.2:g.76076C>T , LRG_310:g.76076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1774C>T MANE Select | ENSP00000263967.3:p.Pro592Ser | |
| ENST00000462255.2:n.236C>T | ||
| ENST00000643187.1:c.1774C>T | ENSP00000493507.1:p.Pro592Ser | |
| ENST00000674534.1:n.2682C>T | ||
| ENST00000674622.1:c.195C>T | ENSP00000502417.1:n.195C>T | |
| ENST00000675467.1:n.4581C>T | ||
| ENST00000675786.1:c.*341C>T | ENSP00000502323.1:n.*341C>T | |
| ENST00000263967.3:c.1774C>T | ENSP00000263967.3:p.Pro592Ser | |
| ENST00000462255.1:n.48C>T | ||
| NM_006218.2:c.1774C>T , LRG_310t1:c.1774C>T | NP_006209.2:p.Pro592Ser | |
| XM_006713658.2:c.1774C>T | XP_006713721.1:p.Pro592Ser | |
| XM_011512894.1:c.1774C>T | XP_011511196.1:p.Pro592Ser | |
| NM_006218.3:c.1774C>T | NP_006209.2:p.Pro592Ser | |
| XM_006713658.4:c.1774C>T | XP_006713721.1:p.Pro592Ser | |
| XM_011512894.2:c.1774C>T | XP_011511196.1:p.Pro592Ser | |
| NM_006218.4:c.1774C>T MANE Select | NP_006209.2:p.Pro592Ser |