Linked Data
ClinVar Variation Id:
2862894
ClinVar RCV Id:
RCV003700054
dbSNP Id:
rs1258706790
gnomAD v2:
1-150776539-G-A
gnomAD v3:
1-150804063-G-A
gnomAD v4:
1-150804063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804063G>A , CM000663.2:g.150804063G>A | GRCh38 |
| NC_000001.10:g.150776539G>A , CM000663.1:g.150776539G>A | GRCh37 |
| NC_000001.9:g.149043163G>A | NCBI36 |
| NG_011848.1:g.9274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.576C>T MANE Select | ENSP00000271651.3:p.Asn192= | |
| ENST00000443913.2:c.753C>T | ENSP00000405083.2:p.Asn251= | |
| ENST00000480670.2:n.3645C>T | ||
| ENST00000676680.1:c.576C>T | ENSP00000503270.1:p.Asn192= | |
| ENST00000676716.1:c.453C>T | ENSP00000504737.1:p.Asn151= | |
| ENST00000676751.1:c.576C>T | ENSP00000502964.1:p.Asn192= | |
| ENST00000676824.1:c.576C>T | ENSP00000504176.1:p.Asn192= | |
| ENST00000676966.1:c.576C>T | ENSP00000503723.1:p.Asn192= | |
| ENST00000676970.1:c.576C>T | ENSP00000503832.1:p.Asn192= | |
| ENST00000677330.1:n.2402C>T | ||
| ENST00000677611.1:n.428C>T | ||
| ENST00000677887.1:c.618C>T | ENSP00000503876.1:p.Asn206= | |
| ENST00000678275.1:c.*468C>T | ENSP00000504796.1:n.*468C>T | |
| ENST00000678337.1:c.612C>T | ENSP00000504759.1:p.Asn204= | |
| ENST00000678725.1:n.1553C>T | ||
| ENST00000679090.1:n.1161C>T | ||
| ENST00000679148.1:n.3538C>T | ||
| ENST00000679171.1:n.2937C>T | ||
| ENST00000679260.1:c.399+1798C>T | ENSP00000504534.1:n.399+1798C>T | |
| ENST00000271651.7:c.576C>T | ENSP00000271651.3:p.Asn192= | |
| ENST00000443913.1:c.753C>T | ENSP00000405083.1:p.Asn251= | |
| ENST00000480670.1:n.416C>T | ||
| NM_000396.3:c.576C>T | NP_000387.1:p.Asn192= | |
| NM_000396.4:c.576C>T MANE Select | NP_000387.1:p.Asn192= |