Linked Data
ClinVar Variation Id:
2831491
ClinVar RCV Id:
RCV003686616
MyVariant Identifiers:
chr17:g.45360903C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283537C>A , CM000679.2:g.47283537C>A | GRCh38 |
| NC_000017.10:g.45360903C>A , CM000679.1:g.45360903C>A | GRCh37 |
| NC_000017.9:g.42715902C>A | NCBI36 |
| NG_008332.2:g.34696C>A , LRG_481:g.34696C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.349C>A | ENSP00000513002.1:p.Arg117= | |
| ENST00000559488.7:c.349C>A MANE Select | ENSP00000452786.2:p.Arg117= | |
| ENST00000559488.5:c.349C>A | ENSP00000452786.1:p.Arg117= | |
| ENST00000560629.1:c.314C>A | ||
| ENST00000571680.1:c.349C>A | ENSP00000461626.1:p.Arg117= | |
| NM_000212.2:c.349C>A , LRG_481t1:c.349C>A | NP_000203.2:p.Arg117= | |
| NM_000212.3:c.349C>A MANE Select | NP_000203.2:p.Arg117= |