Linked Data
ClinVar Variation Id:
2934791
ClinVar RCV Id:
RCV003798493
MyVariant Identifiers:
chr5:g.149357695C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978132C>A , CM000667.2:g.149978132C>A | GRCh38 |
| NC_000005.9:g.149357695C>A , CM000667.1:g.149357695C>A | GRCh37 |
| NC_000005.8:g.149337888C>A | NCBI36 |
| NG_007147.2:g.19250C>A , LRG_684:g.19250C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.712C>A | ||
| ENST00000286298.5:c.480C>A MANE Select | ENSP00000286298.4:p.Ile160= | |
| ENST00000286298.4:c.480C>A | ENSP00000286298.4:p.Ile160= | |
| ENST00000503336.1:c.153C>A | ENSP00000426053.1:p.Ile51= | |
| NM_000112.3:c.480C>A , LRG_684t1:c.480C>A | NP_000103.2:p.Ile160= | |
| XM_017009191.2:c.480C>A | XP_016864680.1:p.Ile160= | |
| NM_000112.4:c.480C>A MANE Select | NP_000103.2:p.Ile160= |