Linked Data
ClinVar Variation Id:
376481
ClinVar RCV Id:
RCV000418650
RCV000418770
RCV000419872
RCV000423601
RCV000423888
RCV000425154
RCV000425376
RCV000427565
RCV000431246
RCV000431731
RCV000429930
RCV000430152
RCV000434142
RCV000433980
RCV000435397
RCV000436517
RCV000436651
RCV000440716
RCV000441412
RCV000441288
RCV000443463
RCV000442558
dbSNP Id:
rs1057519932
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234298T>G , CM000665.2:g.179234298T>G | GRCh38 |
| NC_000003.11:g.178952086T>G , CM000665.1:g.178952086T>G | GRCh37 |
| NC_000003.10:g.180434780T>G | NCBI36 |
| NG_012113.2:g.90776T>G , LRG_310:g.90776T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.3141T>G MANE Select | ENSP00000263967.3:p.His1047Gln | |
| ENST00000462255.2:n.2164T>G | ||
| ENST00000643187.1:c.*221T>G | ENSP00000493507.1:n.*221T>G | |
| ENST00000674534.1:n.4049T>G | ||
| ENST00000674622.1:c.1562T>G | ENSP00000502417.1:n.1562T>G | |
| ENST00000675467.1:n.5948T>G | ||
| ENST00000675786.1:c.*1708T>G | ENSP00000502323.1:n.*1708T>G | |
| ENST00000675796.1:n.3036T>G | ||
| ENST00000263967.3:c.3141T>G | ENSP00000263967.3:p.His1047Gln | |
| NM_006218.2:c.3141T>G , LRG_310t1:c.3141T>G | NP_006209.2:p.His1047Gln | |
| XM_006713658.2:c.3141T>G | XP_006713721.1:p.His1047Gln | |
| XM_011512894.1:c.3141T>G | XP_011511196.1:p.His1047Gln | |
| NM_006218.3:c.3141T>G | NP_006209.2:p.His1047Gln | |
| XM_006713658.4:c.3141T>G | XP_006713721.1:p.His1047Gln | |
| XM_011512894.2:c.3141T>G | XP_011511196.1:p.His1047Gln | |
| NM_006218.4:c.3141T>G MANE Select | NP_006209.2:p.His1047Gln |