Linked Data
ClinVar Variation Id:
372839
dbSNP Id:
rs1057518016
gnomAD v2:
14-68264467-G-A
gnomAD v4:
14-67797750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67797750G>A , CM000676.2:g.67797750G>A | GRCh38 |
| NC_000014.8:g.68264467G>A , CM000676.1:g.68264467G>A | GRCh37 |
| NC_000014.7:g.67334220G>A | NCBI36 |
| NG_011836.1:g.23840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.2254C>T MANE Select | ENSP00000251119.5:p.Gln752Ter | |
| ENST00000676512.1:c.2254C>T | ENSP00000504552.1:p.Gln752Ter | |
| ENST00000676620.1:c.2254C>T | ENSP00000504587.1:p.Gln752Ter | |
| ENST00000677026.1:c.2050C>T | ENSP00000503710.1:p.Gln684Ter | |
| ENST00000678382.1:c.*1249C>T | ENSP00000504130.1:n.*1249C>T | |
| ENST00000678386.1:c.2254C>T | ENSP00000503677.1:p.Gln752Ter | |
| ENST00000347230.8:c.2254C>T | ENSP00000251119.5:p.Gln752Ter | |
| ENST00000554523.5:n.2391C>T | ||
| ENST00000554557.5:c.*551C>T | ENSP00000450431.1:n.*551C>T | |
| ENST00000555452.1:c.2254C>T | ENSP00000450603.1:p.Gln752Ter | |
| ENST00000557366.5:n.2300C>T | ||
| ENST00000557407.1:n.2389C>T | ||
| NM_015346.3:c.2254C>T | NP_056161.2:p.Gln752Ter | |
| XM_006720093.2:c.2254C>T | XP_006720156.1:p.Gln752Ter | |
| XM_011536606.1:c.745C>T | XP_011534908.1:p.Gln249Ter | |
| XM_011536609.1:c.2254C>T | XP_011534911.1:p.Gln752Ter | |
| XM_011536609.2:c.2254C>T | XP_011534911.1:p.Gln752Ter | |
| XM_017021124.1:c.2254C>T | XP_016876613.1:p.Gln752Ter | |
| XM_017021125.1:c.2254C>T | XP_016876614.1:p.Gln752Ter | |
| XM_017021126.1:c.745C>T | XP_016876615.1:p.Gln249Ter | |
| NM_015346.4:c.2254C>T MANE Select | NP_056161.2:p.Gln752Ter |