Linked Data
ClinVar Variation Id:
1789947
ClinVar RCV Id:
RCV002448348
dbSNP Id:
rs2154008893
gnomAD v3:
11-68936828-G-A
gnomAD v4:
11-68936828-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936828G>A , CM000673.2:g.68936828G>A | GRCh38 |
| NC_000011.9:g.68704296G>A , CM000673.1:g.68704296G>A | GRCh37 |
| NC_000011.8:g.68460872G>A | NCBI36 |
| NG_007976.1:g.37978G>A , LRG_250:g.37978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2348G>A MANE Select | ENSP00000255078.4:p.Ser783Asn | |
| ENST00000674675.1:c.587+5G>A | ||
| ENST00000674878.1:c.547+45G>A | ||
| ENST00000674955.1:c.*1065G>A | ENSP00000502463.1:n.*1065G>A | |
| ENST00000675118.1:c.1836G>A | ||
| ENST00000675389.1:n.623G>A | ||
| ENST00000675615.1:c.2348G>A | ENSP00000502413.1:p.Ser783Asn | |
| ENST00000675648.1:n.1723G>A | ||
| ENST00000675916.1:c.592G>A | ||
| ENST00000676173.1:n.3093G>A | ||
| ENST00000676182.1:c.779G>A | ||
| ENST00000676228.1:c.*1671G>A | ENSP00000502375.1:n.*1671G>A | |
| ENST00000255078.7:c.2348G>A | ENSP00000255078.3:p.Ser783Asn | |
| ENST00000539064.5:n.2107G>A | ||
| ENST00000543739.5:n.1341G>A | ||
| NM_002180.2:c.2348G>A , LRG_250t1:c.2348G>A | NP_002171.2:p.Ser783Asn | |
| XM_005273974.2:c.1337G>A | XP_005274031.1:p.Ser446Asn | |
| XM_005273975.2:c.1220G>A | XP_005274032.1:p.Ser407Asn | |
| XM_011544994.1:c.1115G>A | XP_011543296.1:p.Ser372Asn | |
| XR_949903.1:n.2450G>A | ||
| XM_005273975.3:c.1220G>A | XP_005274032.1:p.Ser407Asn | |
| XM_017017669.2:c.1337G>A | XP_016873158.1:p.Ser446Asn | |
| XM_017017670.2:c.1337G>A | XP_016873159.1:p.Ser446Asn | |
| XR_949903.3:n.2446G>A | ||
| NM_002180.3:c.2348G>A MANE Select | NP_002171.2:p.Ser783Asn |