Linked Data
ClinVar Variation Id:
753826
dbSNP Id:
rs1570944907
MyVariant Identifiers:
chr1:g.17349190G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022695G>A , CM000663.2:g.17022695G>A | GRCh38 |
| NC_000001.10:g.17349190G>A , CM000663.1:g.17349190G>A | GRCh37 |
| NC_000001.9:g.17221777G>A | NCBI36 |
| NG_012340.1:g.36476C>T , LRG_316:g.36476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.507C>T | ENSP00000481376.2:p.Phe169= | |
| ENST00000491274.6:c.636C>T | ENSP00000480482.2:p.Phe212= | |
| ENST00000375499.8:c.678C>T MANE Select | ENSP00000364649.3:p.Phe226= | |
| ENST00000375499.7:c.678C>T | ENSP00000364649.3:p.Phe226= | |
| ENST00000475049.5:n.103C>T | ||
| ENST00000485092.5:n.342C>T | ||
| ENST00000485515.5:n.612C>T | ||
| NM_003000.2:c.678C>T , LRG_316t1:c.678C>T | NP_002991.2:p.Phe226= | |
| NM_003000.3:c.678C>T MANE Select | NP_002991.2:p.Phe226= |