Linked Data
ClinVar Variation Id:
88841
ClinVar RCV Id:
RCV000074429
dbSNP Id:
rs483352914
PubMed:
PMID:23666529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58679179A>T , CM000677.2:g.58679179A>T | GRCh38 |
| NC_000015.9:g.58971378A>T , CM000677.1:g.58971378A>T | GRCh37 |
| NC_000015.8:g.56758670A>T | NCBI36 |
| NG_033876.1:g.75800T>A | |
| NG_033876.2:g.75529T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260408.8:c.429T>A MANE Select | ENSP00000260408.3:p.Tyr143Ter | |
| ENST00000260408.7:c.429T>A | ENSP00000260408.3:p.Tyr143Ter | |
| ENST00000396136.6:c.104T>A | ||
| ENST00000402627.5:c.56-38349T>A | ENSP00000386056.1:n.56-38349T>A | |
| ENST00000439637.5:c.325+3017T>A | ENSP00000391930.1:n.325+3017T>A | |
| ENST00000497846.5:n.546T>A | ||
| ENST00000558004.1:c.332-13982T>A | ENSP00000452704.1:n.332-13982T>A | |
| ENST00000558733.5:n.665T>A | ||
| ENST00000559053.1:c.56-38349T>A | ENSP00000453952.1:n.56-38349T>A | |
| ENST00000560608.5:n.567T>A | ||
| ENST00000561288.1:c.55+70301T>A | ENSP00000452639.1:n.55+70301T>A | |
| NM_001110.3:c.429T>A | NP_001101.1:p.Tyr143Ter | |
| XM_005254117.2:c.429T>A | XP_005254174.1:p.Tyr143Ter | |
| NM_001320570.1:c.429T>A | NP_001307499.1:p.Tyr143Ter | |
| XM_024449818.1:c.207T>A | XP_024305586.1:p.Tyr69Ter | |
| NM_001110.4:c.429T>A MANE Select | NP_001101.1:p.Tyr143Ter | |
| NM_001320570.2:c.429T>A | NP_001307499.1:p.Tyr143Ter |