Linked Data
ClinVar Variation Id:
1723768
ClinVar RCV Id:
RCV002306329
dbSNP Id:
rs747581337
ExAC:
10:50679087 A / T
gnomAD v2:
10-50679087-A-T
gnomAD v3:
10-49471041-A-T
gnomAD v4:
10-49471041-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471041A>T , CM000672.2:g.49471041A>T | GRCh38 |
| NC_000010.10:g.50679087A>T , CM000672.1:g.50679087A>T | GRCh37 |
| NC_000010.9:g.50349093A>T | NCBI36 |
| NG_009442.1:g.73061T>A , LRG_465:g.73061T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3004T>A MANE Select | ENSP00000348089.5:p.Tyr1002Asn | |
| ENST00000679552.1:n.142-152T>A | ||
| ENST00000679871.1:n.150T>A | ||
| ENST00000679974.1:n.120-152T>A | ||
| ENST00000681632.1:n.4407T>A | ||
| ENST00000681659.1:c.2845T>A | ENSP00000505631.1:p.Tyr949Asn | |
| ENST00000355832.9:c.3004T>A | ENSP00000348089.5:p.Tyr1002Asn | |
| ENST00000623073.3:c.*1300T>A | ENSP00000485650.1:n.*1300T>A | |
| ENST00000623115.3:c.1114T>A | ENSP00000485321.1:p.Tyr372Asn | |
| ENST00000624341.3:c.836T>A | ||
| NM_000124.3:c.3004T>A | NP_000115.1:p.Tyr1002Asn | |
| XR_945953.1:n.243-524A>T | ||
| NM_001346440.1:c.3004T>A | NP_001333369.1:p.Tyr1002Asn | |
| NM_000124.4:c.3004T>A MANE Select | NP_000115.1:p.Tyr1002Asn | |
| NM_001346440.2:c.3004T>A | NP_001333369.1:p.Tyr1002Asn |