Linked Data
ClinVar Variation Id:
2834561
ClinVar RCV Id:
RCV003599433
MyVariant Identifiers:
chr4:g.17513638G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17512015G>A , CM000666.2:g.17512015G>A | GRCh38 |
| NC_000004.11:g.17513638G>A , CM000666.1:g.17513638G>A | GRCh37 |
| NC_000004.10:g.17122736G>A | NCBI36 |
| NG_008763.1:g.5220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281243.10:c.40C>T MANE Select | ENSP00000281243.5:p.Leu14= | |
| ENST00000281243.9:c.40C>T | ENSP00000281243.5:p.Leu14= | |
| ENST00000428702.6:c.40C>T | ENSP00000390944.2:p.Leu14= | |
| ENST00000507439.5:c.40C>T | ENSP00000423227.1:p.Leu14= | |
| ENST00000508623.5:c.40C>T | ENSP00000426377.1:p.Leu14= | |
| ENST00000513615.5:c.40C>T | ENSP00000422759.1:p.Leu14= | |
| ENST00000514300.1:c.40C>T | ENSP00000426039.1:p.Leu14= | |
| NM_000320.2:c.40C>T | NP_000311.2:p.Leu14= | |
| NM_001306140.1:c.40C>T | NP_001293069.1:p.Leu14= | |
| XR_241677.1:n.203C>T | ||
| NR_156494.1:n.220C>T | ||
| NM_000320.3:c.40C>T MANE Select | NP_000311.2:p.Leu14= | |
| NM_001306140.2:c.40C>T | NP_001293069.1:p.Leu14= | |
| NR_156494.2:n.76C>T |