Linked Data
ClinVar Variation Id:
450419
dbSNP Id:
rs1436390158
gnomAD v2:
2-189899675-T-A
gnomAD v3:
2-189034949-T-A
gnomAD v4:
2-189034949-T-A
COSMIC:
COSM372222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034949T>A , CM000664.2:g.189034949T>A | GRCh38 |
| NC_000002.11:g.189899675T>A , CM000664.1:g.189899675T>A | GRCh37 |
| NC_000002.10:g.189607920T>A | NCBI36 |
| NG_011799.1:g.149931A>T | |
| NG_011799.2:g.149931A>T | |
| NG_011799.3:g.195353A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4320A>T MANE Select | ENSP00000364000.3:p.Arg1440Ser | |
| ENST00000374866.7:c.4320A>T | ENSP00000364000.3:p.Arg1440Ser | |
| ENST00000618828.1:c.3159A>T | ENSP00000482184.1:p.Arg1053Ser | |
| NM_000393.3:c.4320A>T | NP_000384.2:p.Arg1440Ser | |
| XM_011510573.1:c.4182A>T | XP_011508875.1:p.Arg1394Ser | |
| NM_000393.4:c.4320A>T | NP_000384.2:p.Arg1440Ser | |
| XM_011510573.3:c.4182A>T | XP_011508875.1:p.Arg1394Ser | |
| NM_000393.5:c.4320A>T MANE Select | NP_000384.2:p.Arg1440Ser |