Linked Data
ClinVar Variation Id:
437420
ClinVar RCV Id:
RCV000504482
dbSNP Id:
rs1555394999
PubMed:
PMID:24759409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434594C>T , CM000677.2:g.48434594C>T | GRCh38 |
| NC_000015.9:g.48726791C>T , CM000677.1:g.48726791C>T | GRCh37 |
| NC_000015.8:g.46514083C>T | NCBI36 |
| NG_008805.2:g.216195G>A , LRG_778:g.216195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6616G>A | ENSP00000453958.2:p.Asp2206Asn | |
| ENST00000674301.2:c.6616G>A | ENSP00000501333.2:p.Gly2206Arg | |
| ENST00000682170.1:n.225G>A | ||
| ENST00000316623.10:c.6616G>A MANE Select | ENSP00000325527.5:p.Asp2206Asn | |
| ENST00000674301.1:c.1615G>A | ENSP00000501333.1:p.Gly539Arg | |
| ENST00000316623.9:c.6616G>A | ENSP00000325527.5:p.Asp2206Asn | |
| ENST00000537463.6:c.*2379G>A | ENSP00000440294.2:n.*2379G>A | |
| ENST00000559133.5:c.1923G>A | ||
| NM_000138.4:c.6616G>A , LRG_778t1:c.6616G>A | NP_000129.3:p.Asp2206Asn | |
| NM_000138.5:c.6616G>A MANE Select | NP_000129.3:p.Asp2206Asn |