Linked Data
ClinVar Variation Id:
376487
ClinVar RCV Id:
RCV000419689
RCV000421068
RCV000424307
RCV000429768
RCV000430807
RCV000432173
RCV000434560
RCV000440867
RCV000438701
RCV000442804
RCV000441125
dbSNP Id:
rs1057519936
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234284A>T , CM000665.2:g.179234284A>T | GRCh38 |
| NC_000003.11:g.178952072A>T , CM000665.1:g.178952072A>T | GRCh37 |
| NC_000003.10:g.180434766A>T | NCBI36 |
| NG_012113.2:g.90762A>T , LRG_310:g.90762A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.3127A>T MANE Select | ENSP00000263967.3:p.Met1043Leu | |
| ENST00000462255.2:n.2150A>T | ||
| ENST00000643187.1:c.*207A>T | ENSP00000493507.1:n.*207A>T | |
| ENST00000674534.1:n.4035A>T | ||
| ENST00000674622.1:c.1548A>T | ENSP00000502417.1:n.1548A>T | |
| ENST00000675467.1:n.5934A>T | ||
| ENST00000675786.1:c.*1694A>T | ENSP00000502323.1:n.*1694A>T | |
| ENST00000675796.1:n.3022A>T | ||
| ENST00000263967.3:c.3127A>T | ENSP00000263967.3:p.Met1043Leu | |
| NM_006218.2:c.3127A>T , LRG_310t1:c.3127A>T | NP_006209.2:p.Met1043Leu | |
| XM_006713658.2:c.3127A>T | XP_006713721.1:p.Met1043Leu | |
| XM_011512894.1:c.3127A>T | XP_011511196.1:p.Met1043Leu | |
| NM_006218.3:c.3127A>T | NP_006209.2:p.Met1043Leu | |
| XM_006713658.4:c.3127A>T | XP_006713721.1:p.Met1043Leu | |
| XM_011512894.2:c.3127A>T | XP_011511196.1:p.Met1043Leu | |
| NM_006218.4:c.3127A>T MANE Select | NP_006209.2:p.Met1043Leu |