Linked Data
ClinVar Variation Id:
2236900
ClinVar RCV Id:
RCV002718905
dbSNP Id:
rs543608145
ExAC:
5:7895872 A / C
gnomAD v2:
5-7895872-A-C
gnomAD v3:
5-7895759-A-C
gnomAD v4:
5-7895759-A-C
COSMIC:
COSM1070443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7895759A>C , CM000667.2:g.7895759A>C | GRCh38 |
| NC_000005.9:g.7895872A>C , CM000667.1:g.7895872A>C | GRCh37 |
| NC_000005.8:g.7948872A>C | NCBI36 |
| NG_008856.1:g.31656A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1583A>C MANE Select | ENSP00000402510.2:p.Asn528Thr | |
| ENST00000264668.6:c.1664A>C | ENSP00000264668.2:p.Asn555Thr | |
| ENST00000440940.6:c.1583A>C | ENSP00000402510.2:p.Asn528Thr | |
| ENST00000510525.5:c.1519A>C | ||
| ENST00000511461.5:c.1496A>C | ||
| ENST00000513439.5:c.*1290A>C | ENSP00000426710.1:n.*1290A>C | |
| NM_002454.2:c.1583A>C | NP_002445.2:p.Asn528Thr | |
| NM_024010.2:c.1664A>C | NP_076915.2:p.Asn555Thr | |
| XM_011514043.1:c.1664A>C | XP_011512345.1:p.Asn555Thr | |
| XM_011514044.1:c.1583A>C | XP_011512346.1:p.Asn528Thr | |
| XR_241702.1:n.1597A>C | ||
| XR_241703.1:n.1590A>C | ||
| XR_925614.1:n.1709A>C | ||
| NM_001364440.1:c.1583A>C | NP_001351369.1:p.Asn528Thr | |
| NM_001364441.1:c.1583A>C | NP_001351370.1:p.Asn528Thr | |
| NM_001364442.1:c.1583A>C | NP_001351371.1:p.Asn528Thr | |
| NM_024010.3:c.1583A>C | NP_076915.3:p.Asn528Thr | |
| NR_134480.1:n.1706A>C | ||
| NR_134481.1:n.1631A>C | ||
| NR_134482.1:n.1566A>C | ||
| NR_157168.1:n.1636A>C | ||
| NR_157169.1:n.1496A>C | ||
| NR_157170.1:n.1662A>C | ||
| NR_157171.1:n.1519A>C | ||
| NR_157172.1:n.1433A>C | ||
| NR_157173.1:n.1673A>C | ||
| NR_157174.1:n.1674A>C | ||
| NR_157175.1:n.1828A>C | ||
| NR_157176.1:n.1991A>C | ||
| NR_157177.1:n.1671A>C | ||
| NR_157178.1:n.1699A>C | ||
| XM_024446063.1:c.1628A>C | XP_024301831.1:p.Asn543Thr | |
| XM_024446064.1:c.1583A>C | XP_024301832.1:p.Asn528Thr | |
| XR_001742071.1:n.1861A>C | ||
| XR_001742072.1:n.1838A>C | ||
| XR_001742074.1:n.1597A>C | ||
| XR_001742075.1:n.1749A>C | ||
| XR_001742076.1:n.1826A>C | ||
| XR_001742077.1:n.1849A>C | ||
| NM_001364440.2:c.1583A>C | NP_001351369.1:p.Asn528Thr | |
| NM_001364441.2:c.1583A>C | NP_001351370.1:p.Asn528Thr | |
| NM_001364442.2:c.1583A>C | NP_001351371.1:p.Asn528Thr | |
| NM_002454.3:c.1583A>C MANE Select | NP_002445.2:p.Asn528Thr | |
| NM_024010.4:c.1583A>C | NP_076915.3:p.Asn528Thr | |
| NR_134480.2:n.1662A>C | ||
| NR_134481.2:n.1587A>C | ||
| NR_134482.2:n.1522A>C | ||
| NR_157168.2:n.1636A>C | ||
| NR_157169.2:n.1496A>C | ||
| NR_157170.2:n.1662A>C | ||
| NR_157171.2:n.1519A>C | ||
| NR_157172.2:n.1433A>C | ||
| NR_157173.2:n.1673A>C | ||
| NR_157174.2:n.1674A>C | ||
| NR_157175.2:n.1828A>C | ||
| NR_157176.2:n.1991A>C | ||
| NR_157177.2:n.1671A>C | ||
| NR_157178.2:n.1699A>C |