Linked Data
ClinVar Variation Id:
2578390
ClinVar RCV Id:
RCV003326107
MyVariant Identifiers:
chr8:g.48691020C>T (hg19)
MutSpliceDB:
CA460601542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47778459C>T , CM000670.2:g.47778459C>T | GRCh38 |
| NC_000008.10:g.48691020C>T , CM000670.1:g.48691020C>T | GRCh37 |
| NC_000008.9:g.48853573C>T | NCBI36 |
| NG_023435.1:g.186725G>A , LRG_162:g.186725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697601.1:n.1124G>A | ||
| ENST00000697602.1:n.2426G>A | ||
| ENST00000697603.1:c.4530G>A | ENSP00000513358.1:p.Gln1510= | |
| ENST00000697604.1:n.1161G>A | ||
| ENST00000697605.1:n.1120G>A | ||
| ENST00000314191.7:c.11853G>A MANE Select | ENSP00000313420.3:p.Gln3951= | |
| ENST00000314191.6:c.11853G>A | ENSP00000313420.3:p.Gln3951= | |
| ENST00000338368.7:c.11760G>A | ENSP00000345182.4:p.Gln3920= | |
| ENST00000521331.5:n.1087G>A | ||
| ENST00000536429.1:c.79G>A | ||
| ENST00000536483.1:n.261G>A | ||
| NM_001081640.1:c.11760G>A | NP_001075109.1:p.Gln3920= | |
| NM_006904.6:c.11853G>A , LRG_162t1:c.11853G>A | NP_008835.5:p.Gln3951= | |
| XM_011517567.1:c.11856G>A | XP_011515869.1:p.Gln3952= | |
| XM_011517568.1:c.11763G>A | XP_011515870.1:p.Gln3921= | |
| NM_001081640.2:c.11760G>A | NP_001075109.1:p.Gln3920= | |
| NM_006904.7:c.11853G>A MANE Select | NP_008835.5:p.Gln3951= |