Linked Data
ClinVar Variation Id:
376700
ClinVar RCV Id:
RCV002244866
dbSNP Id:
rs1057520011
gnomAD v4:
6-80038006-G-T
COSMIC:
COSM84994
PubMed:
PMID:20581473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80038006G>T , CM000668.2:g.80038006G>T | GRCh38 |
| NC_000006.11:g.80747723G>T , CM000668.1:g.80747723G>T | GRCh37 |
| NC_000006.10:g.80804442G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369798.7:c.2089G>T MANE Select | ENSP00000358813.2:p.Asp697Tyr | |
| ENST00000230510.7:c.2086G>T | ENSP00000230510.3:p.Asp696Tyr | |
| ENST00000369798.6:c.2089G>T | ENSP00000358813.2:p.Asp697Tyr | |
| ENST00000504590.1:n.454G>T | ||
| ENST00000509894.5:c.2086G>T | ENSP00000422936.1:p.Asp696Tyr | |
| NM_001166691.1:c.2086G>T | NP_001160163.1:p.Asp696Tyr | |
| NM_003318.4:c.2089G>T | NP_003309.2:p.Asp697Tyr | |
| XM_011536099.1:c.2089G>T | XP_011534401.1:p.Asp697Tyr | |
| XM_011536100.1:c.2086G>T | XP_011534402.1:p.Asp696Tyr | |
| XM_011536099.3:c.2089G>T | XP_011534401.1:p.Asp697Tyr | |
| XM_011536100.3:c.2086G>T | XP_011534402.1:p.Asp696Tyr | |
| XM_017011242.2:c.1924G>T | XP_016866731.1:p.Asp642Tyr | |
| NM_003318.5:c.2089G>T MANE Select | NP_003309.2:p.Asp697Tyr | |
| NM_001166691.2:c.2086G>T | NP_001160163.1:p.Asp696Tyr |