Linked Data
ClinVar Variation Id:
2426426
ClinVar RCV Id:
RCV003119867
dbSNP Id:
rs369430052
gnomAD v4:
5-7895751-A-T
MyVariant Identifiers:
chr5:g.7895864A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7895751A>T , CM000667.2:g.7895751A>T | GRCh38 |
| NC_000005.9:g.7895864A>T , CM000667.1:g.7895864A>T | GRCh37 |
| NC_000005.8:g.7948864A>T | NCBI36 |
| NG_008856.1:g.31648A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1575A>T MANE Select | ENSP00000402510.2:p.Arg525= | |
| ENST00000264668.6:c.1656A>T | ENSP00000264668.2:p.Arg552= | |
| ENST00000440940.6:c.1575A>T | ENSP00000402510.2:p.Arg525= | |
| ENST00000510525.5:c.1511A>T | ||
| ENST00000511461.5:c.1488A>T | ||
| ENST00000513439.5:c.*1282A>T | ENSP00000426710.1:n.*1282A>T | |
| NM_002454.2:c.1575A>T | NP_002445.2:p.Arg525= | |
| NM_024010.2:c.1656A>T | NP_076915.2:p.Arg552= | |
| XM_011514043.1:c.1656A>T | XP_011512345.1:p.Arg552= | |
| XM_011514044.1:c.1575A>T | XP_011512346.1:p.Arg525= | |
| XR_241702.1:n.1589A>T | ||
| XR_241703.1:n.1582A>T | ||
| XR_925614.1:n.1701A>T | ||
| NM_001364440.1:c.1575A>T | NP_001351369.1:p.Arg525= | |
| NM_001364441.1:c.1575A>T | NP_001351370.1:p.Arg525= | |
| NM_001364442.1:c.1575A>T | NP_001351371.1:p.Arg525= | |
| NM_024010.3:c.1575A>T | NP_076915.3:p.Arg525= | |
| NR_134480.1:n.1698A>T | ||
| NR_134481.1:n.1623A>T | ||
| NR_134482.1:n.1558A>T | ||
| NR_157168.1:n.1628A>T | ||
| NR_157169.1:n.1488A>T | ||
| NR_157170.1:n.1654A>T | ||
| NR_157171.1:n.1511A>T | ||
| NR_157172.1:n.1425A>T | ||
| NR_157173.1:n.1665A>T | ||
| NR_157174.1:n.1666A>T | ||
| NR_157175.1:n.1820A>T | ||
| NR_157176.1:n.1983A>T | ||
| NR_157177.1:n.1663A>T | ||
| NR_157178.1:n.1691A>T | ||
| XM_024446063.1:c.1620A>T | XP_024301831.1:p.Arg540= | |
| XM_024446064.1:c.1575A>T | XP_024301832.1:p.Arg525= | |
| XR_001742071.1:n.1853A>T | ||
| XR_001742072.1:n.1830A>T | ||
| XR_001742074.1:n.1589A>T | ||
| XR_001742075.1:n.1741A>T | ||
| XR_001742076.1:n.1818A>T | ||
| XR_001742077.1:n.1841A>T | ||
| NM_001364440.2:c.1575A>T | NP_001351369.1:p.Arg525= | |
| NM_001364441.2:c.1575A>T | NP_001351370.1:p.Arg525= | |
| NM_001364442.2:c.1575A>T | NP_001351371.1:p.Arg525= | |
| NM_002454.3:c.1575A>T MANE Select | NP_002445.2:p.Arg525= | |
| NM_024010.4:c.1575A>T | NP_076915.3:p.Arg525= | |
| NR_134480.2:n.1654A>T | ||
| NR_134481.2:n.1579A>T | ||
| NR_134482.2:n.1514A>T | ||
| NR_157168.2:n.1628A>T | ||
| NR_157169.2:n.1488A>T | ||
| NR_157170.2:n.1654A>T | ||
| NR_157171.2:n.1511A>T | ||
| NR_157172.2:n.1425A>T | ||
| NR_157173.2:n.1665A>T | ||
| NR_157174.2:n.1666A>T | ||
| NR_157175.2:n.1820A>T | ||
| NR_157176.2:n.1983A>T | ||
| NR_157177.2:n.1663A>T | ||
| NR_157178.2:n.1691A>T |