Linked Data
ClinVar Variation Id:
376491
ClinVar RCV Id:
RCV000418387
RCV000423418
RCV000422478
RCV000424039
RCV000429701
RCV000429064
RCV000434775
RCV000434103
RCV000435614
RCV000440379
RCV000441318
RCV000439710
RCV000443458
dbSNP Id:
rs1057519940
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218308G>T , CM000665.2:g.179218308G>T | GRCh38 |
| NC_000003.11:g.178936096G>T , CM000665.1:g.178936096G>T | GRCh37 |
| NC_000003.10:g.180418790G>T | NCBI36 |
| NG_012113.2:g.74786G>T , LRG_310:g.74786G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1638G>T MANE Select | ENSP00000263967.3:p.Gln546His | |
| ENST00000462255.2:n.100G>T | ||
| ENST00000643187.1:c.1638G>T | ENSP00000493507.1:p.Gln546His | |
| ENST00000674534.1:n.1392G>T | ||
| ENST00000674622.1:c.141G>T | ENSP00000502417.1:p.Gln47His | |
| ENST00000675467.1:n.4445G>T | ||
| ENST00000675786.1:c.*205G>T | ENSP00000502323.1:n.*205G>T | |
| ENST00000263967.3:c.1638G>T | ENSP00000263967.3:p.Gln546His | |
| NM_006218.2:c.1638G>T , LRG_310t1:c.1638G>T | NP_006209.2:p.Gln546His | |
| XM_006713658.2:c.1638G>T | XP_006713721.1:p.Gln546His | |
| XM_011512894.1:c.1638G>T | XP_011511196.1:p.Gln546His | |
| NM_006218.3:c.1638G>T | NP_006209.2:p.Gln546His | |
| XM_006713658.4:c.1638G>T | XP_006713721.1:p.Gln546His | |
| XM_011512894.2:c.1638G>T | XP_011511196.1:p.Gln546His | |
| NM_006218.4:c.1638G>T MANE Select | NP_006209.2:p.Gln546His |