Linked Data
ClinVar Variation Id:
376471
ClinVar RCV Id:
RCV000419906
RCV000418841
RCV000422834
RCV000424512
RCV000429114
RCV000430193
RCV000436533
RCV000435835
RCV000440424
RCV000445141
dbSNP Id:
rs1057519925
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179210291G>C , CM000665.2:g.179210291G>C | GRCh38 |
| NC_000003.11:g.178928079G>C , CM000665.1:g.178928079G>C | GRCh37 |
| NC_000003.10:g.180410773G>C | NCBI36 |
| NG_012113.2:g.66769G>C , LRG_310:g.66769G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1357G>C MANE Select | ENSP00000263967.3:p.Glu453Gln | |
| ENST00000643187.1:c.1357G>C | ENSP00000493507.1:p.Glu453Gln | |
| ENST00000674534.1:n.1111G>C | ||
| ENST00000675467.1:n.4164G>C | ||
| ENST00000675786.1:c.1357G>C | ENSP00000502323.1:p.Glu453Gln | |
| ENST00000263967.3:c.1357G>C | ENSP00000263967.3:p.Glu453Gln | |
| NM_006218.2:c.1357G>C , LRG_310t1:c.1357G>C | NP_006209.2:p.Glu453Gln | |
| XM_006713658.2:c.1357G>C | XP_006713721.1:p.Glu453Gln | |
| XM_011512894.1:c.1357G>C | XP_011511196.1:p.Glu453Gln | |
| NM_006218.3:c.1357G>C | NP_006209.2:p.Glu453Gln | |
| XM_006713658.4:c.1357G>C | XP_006713721.1:p.Glu453Gln | |
| XM_011512894.2:c.1357G>C | XP_011511196.1:p.Glu453Gln | |
| NM_006218.4:c.1357G>C MANE Select | NP_006209.2:p.Glu453Gln |