Linked Data
ClinVar Variation Id:
2018645
ClinVar RCV Id:
RCV002862139
MyVariant Identifiers:
chr4:g.1816169G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1814442G>T , CM000666.2:g.1814442G>T | GRCh38 |
| NC_000004.11:g.1816169G>T , CM000666.1:g.1816169G>T | GRCh37 |
| NC_000004.10:g.1785967G>T | NCBI36 |
| NG_013063.1:g.46806C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.2202C>A MANE Select | ENSP00000305653.2:p.Val734= | |
| ENST00000302787.2:c.2202C>A | ENSP00000305653.2:p.Val734= | |
| NM_012318.2:c.2202C>A | NP_036450.1:p.Val734= | |
| XM_005247970.3:c.1287C>A | XP_005248027.1:p.Val429= | |
| XM_006713884.1:c.2199C>A | XP_006713947.1:p.Val733= | |
| NM_012318.3:c.2202C>A MANE Select | NP_036450.1:p.Val734= |