Linked Data
ClinVar Variation Id:
1114186
ClinVar RCV Id:
RCV001441825
dbSNP Id:
rs746128095
gnomAD v4:
3-150928029-A-G
MyVariant Identifiers:
chr3:g.150645816A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150928029A>G , CM000665.2:g.150928029A>G | GRCh38 |
| NC_000003.11:g.150645816A>G , CM000665.1:g.150645816A>G | GRCh37 |
| NC_000003.10:g.152128506A>G | NCBI36 |
| NG_009168.1:g.49971T>C , LRG_700:g.49971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.606T>C MANE Select | ENSP00000322280.1:p.Asn202= | |
| ENST00000295911.6:c.342+36T>C | ENSP00000295911.2:n.342+36T>C | |
| ENST00000327047.5:c.606T>C | ENSP00000322280.1:p.Asn202= | |
| ENST00000328863.8:c.645T>C | ENSP00000329158.4:p.Asn215= | |
| ENST00000562308.5:c.104+13553T>C | ||
| ENST00000565169.1:c.162+13553T>C | ||
| ENST00000569170.5:c.162+13553T>C | ||
| NM_001195794.1:c.645T>C , LRG_700t1:c.645T>C | NP_001182723.1:p.Asn215= | |
| NM_001256819.1:c.*220T>C | NP_001243748.1:n.*220T>C | |
| NM_052995.2:c.342+36T>C , LRG_700t2:c.342+36T>C | NP_443721.1:n.342+36T>C | |
| NM_174878.2:c.606T>C | NP_777367.1:p.Asn202= | |
| NR_046380.2:n.1087T>C | ||
| XR_924167.1:n.918T>C | ||
| NM_001256819.2:c.*220T>C | NP_001243748.1:n.*220T>C | |
| NM_174878.3:c.606T>C MANE Select | NP_777367.1:p.Asn202= | |
| NR_046380.3:n.815T>C |