Linked Data
ClinVar Variation Id:
637415
dbSNP Id:
rs147895061
gnomAD v3:
5-149026612-C-A
gnomAD v4:
5-149026612-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149026612C>A , CM000667.2:g.149026612C>A | GRCh38 |
| NC_000005.9:g.148406175C>A , CM000667.1:g.148406175C>A | GRCh37 |
| NC_000005.8:g.148386368C>A | NCBI36 |
| NG_007947.2:g.41563G>T , LRG_269:g.41563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.2909G>T | ||
| ENST00000515425.6:c.3013G>T MANE Select | ENSP00000423660.1:p.Glu1005Ter | |
| ENST00000675793.1:c.*2297G>T | ENSP00000502039.1:n.*2297G>T | |
| ENST00000676056.1:c.*2523G>T | ENSP00000501827.1:n.*2523G>T | |
| ENST00000323829.9:c.*2401G>T | ENSP00000313025.5:n.*2401G>T | |
| ENST00000504517.5:c.2543G>T | ENSP00000421779.1:n.2543G>T | |
| ENST00000504690.5:c.3013G>T | ENSP00000425627.1:p.Glu1005Ter | |
| ENST00000510779.1:c.2063G>T | ||
| ENST00000511307.5:c.*2900G>T | ENSP00000421420.1:n.*2900G>T | |
| ENST00000512049.5:c.2992G>T | ENSP00000421860.1:p.Glu998Ter | |
| ENST00000513604.5:c.*2508G>T | ENSP00000423111.1:n.*2508G>T | |
| ENST00000515425.5:c.3013G>T | ENSP00000423660.1:p.Glu1005Ter | |
| NM_024577.3:c.3013G>T , LRG_269t1:c.3013G>T | NP_078853.2:p.Glu1005Ter | |
| NM_024577.4:c.3013G>T MANE Select | NP_078853.2:p.Glu1005Ter |