Linked Data
ClinVar Variation Id:
2578391
ClinVar RCV Id:
RCV003326108
COSMIC:
COSM3779253
MyVariant Identifiers:
chr8:g.48740729C>T (hg19)
MutSpliceDB:
CA460602606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47828168C>T , CM000670.2:g.47828168C>T | GRCh38 |
| NC_000008.10:g.48740729C>T , CM000670.1:g.48740729C>T | GRCh37 |
| NC_000008.9:g.48903282C>T | NCBI36 |
| NG_023435.1:g.137016G>A , LRG_162:g.137016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697603.1:c.1254G>A | ENSP00000513358.1:p.Gln418= | |
| ENST00000697608.1:n.1096G>A | ||
| ENST00000314191.7:c.8577G>A MANE Select | ENSP00000313420.3:p.Gln2859= | |
| ENST00000314191.6:c.8577G>A | ENSP00000313420.3:p.Gln2859= | |
| ENST00000338368.7:c.8577G>A | ENSP00000345182.4:p.Gln2859= | |
| NM_001081640.1:c.8577G>A | NP_001075109.1:p.Gln2859= | |
| NM_006904.6:c.8577G>A , LRG_162t1:c.8577G>A | NP_008835.5:p.Gln2859= | |
| XM_011517567.1:c.8580G>A | XP_011515869.1:p.Gln2860= | |
| XM_011517568.1:c.8580G>A | XP_011515870.1:p.Gln2860= | |
| NM_001081640.2:c.8577G>A | NP_001075109.1:p.Gln2859= | |
| NM_006904.7:c.8577G>A MANE Select | NP_008835.5:p.Gln2859= |