Linked Data
ClinVar Variation Id:
339359
dbSNP Id:
rs886056935
gnomAD v2:
20-62562828-C-T
gnomAD v4:
20-63931475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63931475C>T , CM000682.2:g.63931475C>T | GRCh38 |
| NC_000020.10:g.62562828C>T , CM000682.1:g.62562828C>T | GRCh37 |
| NC_000020.9:g.62033272C>T | NCBI36 |
| NG_029805.1:g.41374C>T | |
| NG_029805.2:g.41374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703637.1:c.*74C>T | ENSP00000515413.1:n.*74C>T | |
| ENST00000360864.9:c.504C>T MANE Select | ENSP00000354111.4:p.Asp168= | |
| ENST00000360864.8:c.504C>T | ENSP00000354111.4:p.Asp168= | |
| ENST00000470551.1:c.*74C>T | ENSP00000434744.1:n.*74C>T | |
| NM_025219.2:c.504C>T | NP_079495.1:p.Asp168= | |
| XM_011529048.1:c.504C>T | XP_011527350.1:p.Asp168= | |
| XM_011529049.1:c.504C>T | XP_011527351.1:p.Asp168= | |
| XM_011529050.1:c.504C>T | XP_011527352.1:p.Asp168= | |
| XR_936629.1:n.1210C>T | ||
| XR_936630.1:n.1468C>T | ||
| XM_011529048.2:c.504C>T | XP_011527350.1:p.Asp168= | |
| XR_936629.2:n.1223C>T | ||
| NM_025219.3:c.504C>T MANE Select | NP_079495.1:p.Asp168= |