Linked Data
ClinVar Variation Id:
637412
dbSNP Id:
rs1580888993
gnomAD v4:
5-149008950-G-A
COSMIC:
COSM5655524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149008950G>A , CM000667.2:g.149008950G>A | GRCh38 |
| NC_000005.9:g.148388513G>A , CM000667.1:g.148388513G>A | GRCh37 |
| NC_000005.8:g.148368706G>A | NCBI36 |
| NG_007947.2:g.59225C>T , LRG_269:g.59225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3275C>T | ||
| ENST00000515425.6:c.3379C>T MANE Select | ENSP00000423660.1:p.Arg1127Trp | |
| ENST00000675793.1:c.*2663C>T | ENSP00000502039.1:n.*2663C>T | |
| ENST00000323829.9:c.*2767C>T | ENSP00000313025.5:n.*2767C>T | |
| ENST00000504517.5:c.2909C>T | ENSP00000421779.1:n.2909C>T | |
| ENST00000504690.5:c.3379C>T | ENSP00000425627.1:p.Arg1127Trp | |
| ENST00000510779.1:c.2429C>T | ||
| ENST00000512049.5:c.3358C>T | ENSP00000421860.1:p.Arg1120Trp | |
| ENST00000515229.5:n.41C>T | ||
| ENST00000515425.5:c.3379C>T | ENSP00000423660.1:p.Arg1127Trp | |
| NM_024577.3:c.3379C>T , LRG_269t1:c.3379C>T | NP_078853.2:p.Arg1127Trp | |
| NM_024577.4:c.3379C>T MANE Select | NP_078853.2:p.Arg1127Trp |