Linked Data
ClinVar Variation Id:
14240
ClinVar RCV Id:
RCV000015308
dbSNP Id:
rs199422221
PubMed:
PMID:10946006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99619094A>T , CM000666.2:g.99619094A>T | GRCh38 |
| NC_000004.11:g.100540251A>T , CM000666.1:g.100540251A>T | GRCh37 |
| NC_000004.10:g.100759274A>T | NCBI36 |
| NG_011469.1:g.60012A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.2338A>T MANE Select | ENSP00000265517.5:p.Asn780Tyr | |
| ENST00000457717.6:c.2338A>T | ENSP00000400821.1:p.Asn780Tyr | |
| ENST00000511045.6:c.2089A>T | ENSP00000427679.2:p.Asn697Tyr | |
| ENST00000265517.9:c.2338A>T | ENSP00000265517.5:p.Asn780Tyr | |
| ENST00000457717.5:c.2338A>T | ENSP00000400821.1:p.Asn780Tyr | |
| ENST00000511045.5:c.2419A>T | ENSP00000427679.1:p.Asn807Tyr | |
| ENST00000619629.1:c.*785A>T | ENSP00000482850.1:n.*785A>T | |
| NM_000253.3:c.2338A>T | NP_000244.2:p.Asn780Tyr | |
| NM_001300785.1:c.2419A>T | NP_001287714.1:p.Asn807Tyr | |
| NM_000253.4:c.2338A>T | NP_000244.2:p.Asn780Tyr | |
| NM_001300785.2:c.2089A>T | NP_001287714.2:p.Asn697Tyr | |
| NM_001386140.1:c.2338A>T MANE Select | NP_001373069.1:p.Asn780Tyr |