Linked Data
ClinVar Variation Id:
376485
ClinVar RCV Id:
RCV000417957
RCV000419027
RCV000423343
RCV000423589
RCV000429331
RCV000429124
RCV000433627
RCV000435660
RCV000439355
RCV000440154
RCV000441269
dbSNP Id:
rs1057519936
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234284A>G , CM000665.2:g.179234284A>G | GRCh38 |
| NC_000003.11:g.178952072A>G , CM000665.1:g.178952072A>G | GRCh37 |
| NC_000003.10:g.180434766A>G | NCBI36 |
| NG_012113.2:g.90762A>G , LRG_310:g.90762A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.3127A>G MANE Select | ENSP00000263967.3:p.Met1043Val | |
| ENST00000462255.2:n.2150A>G | ||
| ENST00000643187.1:c.*207A>G | ENSP00000493507.1:n.*207A>G | |
| ENST00000674534.1:n.4035A>G | ||
| ENST00000674622.1:c.1548A>G | ENSP00000502417.1:n.1548A>G | |
| ENST00000675467.1:n.5934A>G | ||
| ENST00000675786.1:c.*1694A>G | ENSP00000502323.1:n.*1694A>G | |
| ENST00000675796.1:n.3022A>G | ||
| ENST00000263967.3:c.3127A>G | ENSP00000263967.3:p.Met1043Val | |
| NM_006218.2:c.3127A>G , LRG_310t1:c.3127A>G | NP_006209.2:p.Met1043Val | |
| XM_006713658.2:c.3127A>G | XP_006713721.1:p.Met1043Val | |
| XM_011512894.1:c.3127A>G | XP_011511196.1:p.Met1043Val | |
| NM_006218.3:c.3127A>G | NP_006209.2:p.Met1043Val | |
| XM_006713658.4:c.3127A>G | XP_006713721.1:p.Met1043Val | |
| XM_011512894.2:c.3127A>G | XP_011511196.1:p.Met1043Val | |
| NM_006218.4:c.3127A>G MANE Select | NP_006209.2:p.Met1043Val |