Linked Data
ClinVar Variation Id:
1120949
ClinVar RCV Id:
RCV001451031
dbSNP Id:
rs1555864832
MyVariant Identifiers:
chr19:g.42489181G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41985029G>C , CM000681.2:g.41985029G>C | GRCh38 |
| NC_000019.9:g.42489181G>C , CM000681.1:g.42489181G>C | GRCh37 |
| NC_000019.8:g.47181021G>C | NCBI36 |
| NG_008015.1:g.14202C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.921C>G | ENSP00000444688.1:p.Val307= | |
| ENST00000644613.1:c.882C>G | ENSP00000494711.1:p.Val294= | |
| ENST00000648268.1:c.882C>G MANE Select | ENSP00000498113.1:p.Val294= | |
| ENST00000302102.9:c.882C>G | ENSP00000302397.5:p.Val294= | |
| ENST00000441343.5:c.882C>G | ENSP00000411503.1:p.Val294= | |
| ENST00000485672.2:n.195C>G | ||
| ENST00000543770.5:c.915C>G | ENSP00000437577.1:p.Val305= | |
| ENST00000545399.5:c.921C>G | ENSP00000444688.1:p.Val307= | |
| ENST00000602133.5:c.792C>G | ENSP00000471581.1:p.Val264= | |
| NM_001256213.1:c.915C>G | NP_001243142.1:p.Val305= | |
| NM_001256214.1:c.921C>G | NP_001243143.1:p.Val307= | |
| NM_152296.4:c.882C>G | NP_689509.1:p.Val294= | |
| XM_011526991.1:c.792C>G | XP_011525293.1:p.Val264= | |
| NM_152296.5:c.882C>G MANE Select | NP_689509.1:p.Val294= | |
| NM_001256214.2:c.921C>G | NP_001243143.1:p.Val307= | |
| NM_001256213.2:c.915C>G | NP_001243142.1:p.Val305= |