Linked Data
ClinVar Variation Id:
2178337
ClinVar RCV Id:
RCV002595485
MyVariant Identifiers:
chr17:g.40688329T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536311T>G , CM000679.2:g.42536311T>G | GRCh38 |
| NC_000017.10:g.40688329T>G , CM000679.1:g.40688329T>G | GRCh37 |
| NC_000017.9:g.37941855T>G | NCBI36 |
| NG_011552.1:g.5379T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.39T>G MANE Select | ENSP00000225927.1:p.Leu13= | |
| ENST00000225927.6:c.39T>G | ENSP00000225927.1:p.Leu13= | |
| NM_000263.3:c.39T>G | NP_000254.2:p.Leu13= | |
| XM_024450771.1:c.39T>G | XP_024306539.1:p.Leu13= | |
| NM_000263.4:c.39T>G MANE Select | NP_000254.2:p.Leu13= |