Linked Data
ClinVar Variation Id:
351875
dbSNP Id:
rs775429372
ExAC:
5:148383392 C / T
gnomAD v2:
5-148383392-C-T
gnomAD v3:
5-149003829-C-T
gnomAD v4:
5-149003829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149003829C>T , CM000667.2:g.149003829C>T | GRCh38 |
| NC_000005.9:g.148383392C>T , CM000667.1:g.148383392C>T | GRCh37 |
| NC_000005.8:g.148363585C>T | NCBI36 |
| NG_007947.2:g.64346G>A , LRG_269:g.64346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*882G>A MANE Select | ENSP00000423660.1:n.*882G>A | |
| ENST00000643113.1:c.164G>A | ||
| ENST00000675793.1:c.*5806G>A | ENSP00000502039.1:n.*5806G>A | |
| ENST00000323829.9:c.*4137G>A | ENSP00000313025.5:n.*4137G>A | |
| ENST00000504690.5:c.3689G>A | ENSP00000425627.1:p.Cys1230Tyr | |
| ENST00000510350.1:n.231+3052G>A | ||
| ENST00000515229.5:n.351G>A | ||
| NM_024577.3:c.*882G>A , LRG_269t1:c.*882G>A | NP_078853.2:n.*882G>A | |
| NM_024577.4:c.*882G>A MANE Select | NP_078853.2:n.*882G>A |