Linked Data
ClinVar Variation Id:
1948563
ClinVar RCV Id:
RCV002667832
dbSNP Id:
rs1868624125
MyVariant Identifiers:
chr12:g.102179854A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786076A>G , CM000674.2:g.101786076A>G | GRCh38 |
| NC_000012.11:g.102179854A>G , CM000674.1:g.102179854A>G | GRCh37 |
| NC_000012.10:g.100703985A>G | NCBI36 |
| NG_021243.1:g.49792T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.507T>C MANE Select | ENSP00000299314.7:p.Asn169= | |
| ENST00000299314.11:c.507T>C | ENSP00000299314.7:p.Asn169= | |
| ENST00000549940.5:c.507T>C | ENSP00000449150.1:p.Asn169= | |
| ENST00000550352.1:n.301T>C | ||
| ENST00000552681.1:c.141T>C | ENSP00000449217.1:p.Asn47= | |
| NM_024312.4:c.507T>C | NP_077288.2:p.Asn169= | |
| XM_006719593.2:c.507T>C | XP_006719656.1:p.Asn169= | |
| XM_011538731.1:c.426T>C | XP_011537033.1:p.Asn142= | |
| XM_006719593.3:c.507T>C | XP_006719656.1:p.Asn169= | |
| XM_011538731.2:c.426T>C | XP_011537033.1:p.Asn142= | |
| XM_017019961.1:c.291T>C | XP_016875450.1:p.Asn97= | |
| XM_017019962.2:c.-844T>C | XP_016875451.1:n.-844T>C | |
| NM_024312.5:c.507T>C MANE Select | NP_077288.2:p.Asn169= |