Linked Data
ClinVar Variation Id:
1453676
dbSNP Id:
rs982113263
gnomAD v2:
19-50367244-C-A
gnomAD v4:
19-49863987-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49863987C>A , CM000681.2:g.49863987C>A | GRCh38 |
| NC_000019.9:g.50367244C>A , CM000681.1:g.50367244C>A | GRCh37 |
| NC_000019.8:g.55059056C>A | NCBI36 |
| NG_027717.1:g.8579G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.721G>T MANE Select | ENSP00000323511.2:p.Glu241Ter | |
| ENST00000636214.1:c.*258G>T | ENSP00000489983.1:n.*258G>T | |
| ENST00000322344.7:c.721G>T | ENSP00000323511.2:p.Glu241Ter | |
| ENST00000593706.3:n.76G>T | ||
| ENST00000593946.5:c.*648G>T | ENSP00000468896.1:n.*648G>T | |
| ENST00000594661.5:n.1222G>T | ||
| ENST00000596014.5:c.721G>T | ENSP00000472300.1:p.Glu241Ter | |
| ENST00000599543.3:c.721G>T | ENSP00000469848.2:p.Glu241Ter | |
| ENST00000600573.5:c.721G>T | ENSP00000469826.1:p.Glu241Ter | |
| ENST00000600910.5:c.721G>T | ENSP00000473137.1:p.Glu241Ter | |
| ENST00000627232.2:c.641G>T | ENSP00000486037.1:n.641G>T | |
| ENST00000627317.1:c.342G>T | ||
| ENST00000629179.1:n.492G>T | ||
| ENST00000631020.2:c.636+192G>T | ENSP00000486707.1:n.636+192G>T | |
| NM_007254.3:c.721G>T | NP_009185.2:p.Glu241Ter | |
| NM_007254.4:c.721G>T MANE Select | NP_009185.2:p.Glu241Ter |