Linked Data
ClinVar Variation Id:
161774
ClinVar RCV Id:
RCV000149310
dbSNP Id:
rs193920741
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.7563367C>A , CM000672.2:g.7563367C>A | GRCh38 |
| NC_000010.10:g.7605330C>A , CM000672.1:g.7605330C>A | GRCh37 |
| NC_000010.9:g.7645336C>A | NCBI36 |
| NG_047199.1:g.108632G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397146.7:c.2545G>T MANE Select | ENSP00000380333.3:p.Asp849Tyr | |
| ENST00000397146.6:c.2545G>T | ENSP00000380333.3:p.Asp849Tyr | |
| ENST00000613909.4:c.1903G>T | ENSP00000485414.1:p.Asp635Tyr | |
| NM_030569.6:c.2545G>T | NP_085046.5:p.Asp849Tyr | |
| NM_032817.5:c.1903G>T | NP_116206.4:p.Asp635Tyr | |
| XM_011519713.1:c.2620G>T | XP_011518015.1:p.Asp874Tyr | |
| XM_011519713.3:c.2620G>T | XP_011518015.1:p.Asp874Tyr | |
| NM_030569.7:c.2545G>T MANE Select | NP_085046.5:p.Asp849Tyr | |
| NM_032817.6:c.1903G>T | NP_116206.4:p.Asp635Tyr |