Linked Data
ClinVar Variation Id:
37080
ClinVar RCV Id:
RCV000030727
dbSNP Id:
rs387907276
PubMed:
PMID:21255007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44313931T>A , CM000664.2:g.44313931T>A | GRCh38 |
| NC_000002.11:g.44541070T>A , CM000664.1:g.44541070T>A | GRCh37 |
| NC_000002.10:g.44394574T>A | NCBI36 |
| NG_008233.1:g.43474T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1597T>A MANE Select | ENSP00000260649.6:p.Tyr533Asn | |
| ENST00000649044.1:c.*1608T>A | ENSP00000497083.1:n.*1608T>A | |
| ENST00000260649.10:c.1597T>A | ENSP00000260649.6:p.Tyr533Asn | |
| ENST00000409229.7:c.1597T>A | ENSP00000386620.3:p.Tyr533Asn | |
| ENST00000409294.5:c.457T>A | ENSP00000386852.1:p.Tyr153Asn | |
| ENST00000409380.5:c.763T>A | ENSP00000386709.1:p.Tyr255Asn | |
| ENST00000409387.5:c.1597T>A | ENSP00000387308.1:p.Tyr533Asn | |
| ENST00000409740.3:c.490T>A | ENSP00000386677.3:p.Tyr164Asn | |
| ENST00000611973.4:c.1597T>A | ENSP00000483618.1:p.Tyr533Asn | |
| NM_000341.3:c.1597T>A | NP_000332.2:p.Tyr533Asn | |
| XM_011533047.1:c.1597T>A | XP_011531349.1:p.Tyr533Asn | |
| XM_011533047.3:c.1597T>A | XP_011531349.1:p.Tyr533Asn | |
| NM_000341.4:c.1597T>A MANE Select | NP_000332.2:p.Tyr533Asn |