Linked Data
ClinVar Variation Id:
376483
ClinVar RCV Id:
RCV000421749
RCV000420394
RCV000420617
RCV000428259
RCV000421970
RCV000430633
RCV000428498
RCV000433094
RCV000438515
RCV000438262
RCV000439627
RCV002521505
dbSNP Id:
rs1057519934
CIViC:
CA16602917
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199158G>C , CM000665.2:g.179199158G>C | GRCh38 |
| NC_000003.11:g.178916946G>C , CM000665.1:g.178916946G>C | GRCh37 |
| NC_000003.10:g.180399640G>C | NCBI36 |
| NG_012113.2:g.55636G>C , LRG_310:g.55636G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.333G>C MANE Select | ENSP00000263967.3:p.Lys111Asn | |
| ENST00000643187.1:c.333G>C | ENSP00000493507.1:p.Lys111Asn | |
| ENST00000675467.1:n.3140G>C | ||
| ENST00000675786.1:c.333G>C | ENSP00000502323.1:p.Lys111Asn | |
| ENST00000263967.3:c.333G>C | ENSP00000263967.3:p.Lys111Asn | |
| ENST00000468036.1:c.333G>C | ENSP00000417479.1:p.Lys111Asn | |
| NM_006218.2:c.333G>C , LRG_310t1:c.333G>C | NP_006209.2:p.Lys111Asn | |
| XM_006713658.2:c.333G>C | XP_006713721.1:p.Lys111Asn | |
| XM_011512894.1:c.333G>C | XP_011511196.1:p.Lys111Asn | |
| NM_006218.3:c.333G>C | NP_006209.2:p.Lys111Asn | |
| XM_006713658.4:c.333G>C | XP_006713721.1:p.Lys111Asn | |
| XM_011512894.2:c.333G>C | XP_011511196.1:p.Lys111Asn | |
| NM_006218.4:c.333G>C MANE Select | NP_006209.2:p.Lys111Asn |