Linked Data
ClinVar Variation Id:
1800
ClinVar RCV Id:
RCV000001873
dbSNP Id:
rs104894150
ExAC:
10:104594607 A / T
gnomAD v2:
10-104594607-A-T
gnomAD v4:
10-102834850-A-T
PubMed:
PMID:15713706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834850A>T , CM000672.2:g.102834850A>T | GRCh38 |
| NC_000010.10:g.104594607A>T , CM000672.1:g.104594607A>T | GRCh37 |
| NC_000010.9:g.104584597A>T | NCBI36 |
| NG_007955.1:g.7684T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.601T>A MANE Select | ENSP00000358903.3:p.Tyr201Asn | |
| ENST00000638190.1:c.601T>A | ENSP00000492539.1:p.Tyr201Asn | |
| ENST00000638272.1:c.298-1642T>A | ENSP00000491508.1:n.298-1642T>A | |
| ENST00000638971.1:c.601T>A | ENSP00000492313.1:p.Tyr201Asn | |
| ENST00000639393.1:c.601T>A | ENSP00000492651.1:p.Tyr201Asn | |
| ENST00000640633.1:n.363T>A | ||
| ENST00000369887.3:c.601T>A | ENSP00000358903.3:p.Tyr201Asn | |
| ENST00000489268.1:n.855T>A | ||
| NM_000102.3:c.601T>A | NP_000093.1:p.Tyr201Asn | |
| NM_000102.4:c.601T>A MANE Select | NP_000093.1:p.Tyr201Asn |