Linked Data
ClinVar Variation Id:
190151
ClinVar RCV Id:
RCV000170369
RCV000274383
RCV000384088
RCV000329433
RCV000723972
RCV002478526
RCV004539574
dbSNP Id:
rs116373975
ExAC:
10:50708610 C / A
gnomAD v2:
10-50708610-C-A
gnomAD v3:
10-49500564-C-A
gnomAD v4:
10-49500564-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500564C>A , CM000672.2:g.49500564C>A | GRCh38 |
| NC_000010.10:g.50708610C>A , CM000672.1:g.50708610C>A | GRCh37 |
| NC_000010.9:g.50378616C>A | NCBI36 |
| NG_009442.1:g.43538G>T , LRG_465:g.43538G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1659G>T MANE Select | ENSP00000348089.5:p.Lys553Asn | |
| ENST00000681632.1:n.1737G>T | ||
| ENST00000681659.1:c.1526+5320G>T | ENSP00000505631.1:n.1526+5320G>T | |
| ENST00000355832.9:c.1659G>T | ENSP00000348089.5:p.Lys553Asn | |
| ENST00000475116.1:n.249G>T | ||
| ENST00000623073.3:c.60G>T | ENSP00000485650.1:p.Lys20Asn | |
| ENST00000623115.3:c.-96G>T | ENSP00000485321.1:n.-96G>T | |
| ENST00000623318.1:c.60G>T | ENSP00000485423.1:p.Lys20Asn | |
| NM_000124.3:c.1659G>T | NP_000115.1:p.Lys553Asn | |
| NM_001346440.1:c.1659G>T | NP_001333369.1:p.Lys553Asn | |
| NM_000124.4:c.1659G>T MANE Select | NP_000115.1:p.Lys553Asn | |
| NM_001346440.2:c.1659G>T | NP_001333369.1:p.Lys553Asn |