Linked Data
ClinVar Variation Id:
1666663
ClinVar RCV Id:
RCV002184400
dbSNP Id:
rs1292729275
MyVariant Identifiers:
chr14:g.68249641G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67782924G>A , CM000676.2:g.67782924G>A | GRCh38 |
| NC_000014.8:g.68249641G>A , CM000676.1:g.68249641G>A | GRCh37 |
| NC_000014.7:g.67319394G>A | NCBI36 |
| NG_011836.1:g.38666C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.4228C>T MANE Select | ENSP00000251119.5:p.Leu1410= | |
| ENST00000676512.1:c.4228C>T | ENSP00000504552.1:p.Leu1410= | |
| ENST00000676620.1:c.4228C>T | ENSP00000504587.1:p.Leu1410= | |
| ENST00000678386.1:c.4228C>T | ENSP00000503677.1:p.Leu1410= | |
| ENST00000347230.8:c.4228C>T | ENSP00000251119.5:p.Leu1410= | |
| ENST00000554523.5:n.4365C>T | ||
| ENST00000554557.5:c.*2350+175C>T | ENSP00000450431.1:n.*2350+175C>T | |
| ENST00000555452.1:c.4228C>T | ENSP00000450603.1:p.Leu1410= | |
| NM_015346.3:c.4228C>T | NP_056161.2:p.Leu1410= | |
| XM_006720093.2:c.4228C>T | XP_006720156.1:p.Leu1410= | |
| XM_011536606.1:c.2719C>T | XP_011534908.1:p.Leu907= | |
| XM_011536607.1:c.1903C>T | XP_011534909.1:p.Leu635= | |
| XM_011536608.1:c.1810C>T | XP_011534910.1:p.Leu604= | |
| XM_011536609.1:c.4228C>T | XP_011534911.1:p.Leu1410= | |
| XM_011536609.2:c.4228C>T | XP_011534911.1:p.Leu1410= | |
| XM_017021124.1:c.4228C>T | XP_016876613.1:p.Leu1410= | |
| XM_017021125.1:c.4228C>T | XP_016876614.1:p.Leu1410= | |
| XM_017021126.1:c.2719C>T | XP_016876615.1:p.Leu907= | |
| XM_017021127.2:c.1903C>T | XP_016876616.1:p.Leu635= | |
| XM_017021128.1:c.1810C>T | XP_016876617.1:p.Leu604= | |
| NM_015346.4:c.4228C>T MANE Select | NP_056161.2:p.Leu1410= |