Linked Data
dbSNP Id:
rs1738399141
gnomAD v4:
5-7895754-A-G
MyVariant Identifiers:
chr5:g.7895867A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7895754A>G , CM000667.2:g.7895754A>G | GRCh38 |
| NC_000005.9:g.7895867A>G , CM000667.1:g.7895867A>G | GRCh37 |
| NC_000005.8:g.7948867A>G | NCBI36 |
| NG_008856.1:g.31651A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1578A>G MANE Select | ENSP00000402510.2:p.Thr526= | |
| ENST00000264668.6:c.1659A>G | ENSP00000264668.2:p.Thr553= | |
| ENST00000440940.6:c.1578A>G | ENSP00000402510.2:p.Thr526= | |
| ENST00000510525.5:c.1514A>G | ||
| ENST00000511461.5:c.1491A>G | ||
| ENST00000513439.5:c.*1285A>G | ENSP00000426710.1:n.*1285A>G | |
| NM_002454.2:c.1578A>G | NP_002445.2:p.Thr526= | |
| NM_024010.2:c.1659A>G | NP_076915.2:p.Thr553= | |
| XM_011514043.1:c.1659A>G | XP_011512345.1:p.Thr553= | |
| XM_011514044.1:c.1578A>G | XP_011512346.1:p.Thr526= | |
| XR_241702.1:n.1592A>G | ||
| XR_241703.1:n.1585A>G | ||
| XR_925614.1:n.1704A>G | ||
| NM_001364440.1:c.1578A>G | NP_001351369.1:p.Thr526= | |
| NM_001364441.1:c.1578A>G | NP_001351370.1:p.Thr526= | |
| NM_001364442.1:c.1578A>G | NP_001351371.1:p.Thr526= | |
| NM_024010.3:c.1578A>G | NP_076915.3:p.Thr526= | |
| NR_134480.1:n.1701A>G | ||
| NR_134481.1:n.1626A>G | ||
| NR_134482.1:n.1561A>G | ||
| NR_157168.1:n.1631A>G | ||
| NR_157169.1:n.1491A>G | ||
| NR_157170.1:n.1657A>G | ||
| NR_157171.1:n.1514A>G | ||
| NR_157172.1:n.1428A>G | ||
| NR_157173.1:n.1668A>G | ||
| NR_157174.1:n.1669A>G | ||
| NR_157175.1:n.1823A>G | ||
| NR_157176.1:n.1986A>G | ||
| NR_157177.1:n.1666A>G | ||
| NR_157178.1:n.1694A>G | ||
| XM_024446063.1:c.1623A>G | XP_024301831.1:p.Thr541= | |
| XM_024446064.1:c.1578A>G | XP_024301832.1:p.Thr526= | |
| XR_001742071.1:n.1856A>G | ||
| XR_001742072.1:n.1833A>G | ||
| XR_001742074.1:n.1592A>G | ||
| XR_001742075.1:n.1744A>G | ||
| XR_001742076.1:n.1821A>G | ||
| XR_001742077.1:n.1844A>G | ||
| NM_001364440.2:c.1578A>G | NP_001351369.1:p.Thr526= | |
| NM_001364441.2:c.1578A>G | NP_001351370.1:p.Thr526= | |
| NM_001364442.2:c.1578A>G | NP_001351371.1:p.Thr526= | |
| NM_002454.3:c.1578A>G MANE Select | NP_002445.2:p.Thr526= | |
| NM_024010.4:c.1578A>G | NP_076915.3:p.Thr526= | |
| NR_134480.2:n.1657A>G | ||
| NR_134481.2:n.1582A>G | ||
| NR_134482.2:n.1517A>G | ||
| NR_157168.2:n.1631A>G | ||
| NR_157169.2:n.1491A>G | ||
| NR_157170.2:n.1657A>G | ||
| NR_157171.2:n.1514A>G | ||
| NR_157172.2:n.1428A>G | ||
| NR_157173.2:n.1668A>G | ||
| NR_157174.2:n.1669A>G | ||
| NR_157175.2:n.1823A>G | ||
| NR_157176.2:n.1986A>G | ||
| NR_157177.2:n.1666A>G | ||
| NR_157178.2:n.1694A>G |