Linked Data
ClinVar Variation Id:
932256
ClinVar RCV Id:
RCV001199981
dbSNP Id:
rs62508651
ERepo:
CA16020919/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844374A>T , CM000674.2:g.102844374A>T | GRCh38 |
| NC_000012.11:g.103238152A>T , CM000674.1:g.103238152A>T | GRCh37 |
| NC_000012.10:g.101762282A>T | NCBI36 |
| NG_008690.1:g.78229T>A | |
| NG_008690.2:g.119037T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1027T>A MANE Select | ENSP00000448059.1:p.Tyr343Asn | |
| ENST00000307000.7:c.1012T>A | ENSP00000303500.2:p.Tyr338Asn | |
| ENST00000549247.6:n.786T>A | ||
| ENST00000551114.2:n.689T>A | ||
| ENST00000553106.5:c.1027T>A | ENSP00000448059.1:p.Tyr343Asn | |
| ENST00000635477.1:c.131T>A | ||
| ENST00000635528.1:n.542T>A | ||
| NM_000277.1:c.1027T>A | NP_000268.1:p.Tyr343Asn | |
| XM_011538422.1:c.970T>A | XP_011536724.1:p.Tyr324Asn | |
| NM_000277.2:c.1027T>A | NP_000268.1:p.Tyr343Asn | |
| NM_001354304.1:c.1027T>A | NP_001341233.1:p.Tyr343Asn | |
| NM_000277.3:c.1027T>A MANE Select | NP_000268.1:p.Tyr343Asn | |
| NM_001354304.2:c.1027T>A | NP_001341233.1:p.Tyr343Asn |