Linked Data
ClinVar Variation Id:
7378
ClinVar RCV Id:
RCV001390386
dbSNP Id:
rs121909118
gnomAD v2:
4-77095429-G-A
gnomAD v3:
4-76174276-G-A
gnomAD v4:
4-76174276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76174276G>A , CM000666.2:g.76174276G>A | GRCh38 |
| NC_000004.11:g.77095429G>A , CM000666.1:g.77095429G>A | GRCh37 |
| NC_000004.10:g.77314453G>A | NCBI36 |
| NG_012054.1:g.44607C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682785.1:n.838C>T | ||
| ENST00000264896.8:c.862C>T MANE Select | ENSP00000264896.2:p.Gln288Ter | |
| ENST00000638175.1:n.499C>T | ||
| ENST00000638295.1:c.388C>T | ENSP00000492288.1:p.Gln130Ter | |
| ENST00000638372.1:n.1114C>T | ||
| ENST00000638409.1:n.1177C>T | ||
| ENST00000638603.1:c.742C>T | ENSP00000491728.1:p.Gln248Ter | |
| ENST00000638663.1:c.862C>T | ENSP00000491407.1:p.Gln288Ter | |
| ENST00000638680.1:n.2443C>T | ||
| ENST00000638843.1:n.855C>T | ||
| ENST00000639145.1:c.853C>T | ENSP00000492831.1:p.Gln285Ter | |
| ENST00000639300.1:c.*149C>T | ENSP00000492840.1:n.*149C>T | |
| ENST00000639715.1:c.817C>T | ||
| ENST00000639738.1:c.276-7975C>T | ENSP00000491792.1:n.276-7975C>T | |
| ENST00000640076.1:n.443C>T | ||
| ENST00000640341.1:c.*502C>T | ENSP00000492714.1:n.*502C>T | |
| ENST00000640634.1:c.983C>T | ||
| ENST00000640640.1:c.862C>T | ENSP00000492246.1:p.Gln288Ter | |
| ENST00000640957.1:c.862C>T | ENSP00000492004.1:p.Gln288Ter | |
| ENST00000264896.6:c.862C>T | ENSP00000264896.2:p.Gln288Ter | |
| ENST00000452464.6:c.433C>T | ENSP00000399154.2:p.Gln145Ter | |
| NM_001204255.1:c.433C>T | NP_001191184.1:p.Gln145Ter | |
| NM_005506.3:c.862C>T | NP_005497.1:p.Gln288Ter | |
| NM_005506.4:c.862C>T MANE Select | NP_005497.1:p.Gln288Ter | |
| NM_001204255.2:c.433C>T | NP_001191184.1:p.Gln145Ter |