Linked Data
ClinVar Variation Id:
2813744
ClinVar RCV Id:
RCV003680583
MyVariant Identifiers:
chr6:g.64498119G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63788226G>T , CM000668.2:g.63788226G>T | GRCh38 |
| NC_000006.11:g.64498119G>T , CM000668.1:g.64498119G>T | GRCh37 |
| NC_000006.10:g.64556078G>T | NCBI36 |
| NG_023443.1:g.1924000C>A | |
| NG_023443.2:g.1924000C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7602C>A MANE Select | ENSP00000424243.1:p.Ser2534= | |
| ENST00000370616.6:c.7602C>A | ENSP00000359650.2:p.Ser2534= | |
| ENST00000370618.7:c.7602C>A | ENSP00000359652.4:p.Ser2534= | |
| ENST00000370621.7:c.7602C>A | ENSP00000359655.3:p.Ser2534= | |
| ENST00000398580.3:c.916C>A | ||
| ENST00000486069.1:n.242C>A | ||
| ENST00000503581.5:c.7602C>A | ENSP00000424243.1:p.Ser2534= | |
| NM_001142800.1:c.7602C>A | NP_001136272.1:p.Ser2534= | |
| NM_001292009.1:c.7602C>A | NP_001278938.1:p.Ser2534= | |
| NM_001142800.2:c.7602C>A MANE Select | NP_001136272.1:p.Ser2534= | |
| NM_001292009.2:c.7602C>A | NP_001278938.1:p.Ser2534= |