Linked Data
ClinVar Variation Id:
2792433
ClinVar RCV Id:
RCV003667229
dbSNP Id:
rs1728241588
gnomAD v4:
4-25123952-T-C
MyVariant Identifiers:
chr4:g.25125574T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25123952T>C , CM000666.2:g.25123952T>C | GRCh38 |
| NC_000004.11:g.25125574T>C , CM000666.1:g.25125574T>C | GRCh37 |
| NC_000004.10:g.24734672T>C | NCBI36 |
| NG_028222.1:g.41631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1485A>G MANE Select | ENSP00000371535.2:p.Thr495= | |
| ENST00000680581.1:c.*359A>G | ENSP00000506483.1:n.*359A>G | |
| ENST00000680824.1:n.2701A>G | ||
| ENST00000681071.1:n.1777A>G | ||
| ENST00000681341.1:n.2532A>G | ||
| ENST00000681374.1:n.841A>G | ||
| ENST00000681948.1:c.1740A>G | ENSP00000505991.1:p.Thr580= | |
| ENST00000358971.7:c.*1283A>G | ENSP00000351857.3:n.*1283A>G | |
| ENST00000382103.6:c.1485A>G | ENSP00000371535.2:p.Thr495= | |
| ENST00000514585.5:c.*1186A>G | ENSP00000421880.1:n.*1186A>G | |
| NM_016955.3:c.1485A>G | NP_058651.3:p.Thr495= | |
| XM_005248168.2:c.1248A>G | XP_005248225.1:p.Thr416= | |
| XM_006713965.2:c.1305A>G | XP_006714028.1:p.Thr435= | |
| XM_011513846.1:c.1482A>G | XP_011512148.1:p.Thr494= | |
| XM_011513847.1:c.1452A>G | XP_011512149.1:p.Thr484= | |
| XM_011513848.1:c.1305A>G | XP_011512150.1:p.Thr435= | |
| XM_011513846.2:c.1482A>G | XP_011512148.1:p.Thr494= | |
| XM_011513847.2:c.1452A>G | XP_011512149.1:p.Thr484= | |
| XM_017008277.1:c.1740A>G | XP_016863766.1:p.Thr580= | |
| XM_017008278.1:c.1062A>G | XP_016863767.1:p.Thr354= | |
| NM_016955.4:c.1485A>G MANE Select | NP_058651.3:p.Thr495= |