Linked Data
ClinVar Variation Id:
1631908
ClinVar RCV Id:
RCV002114934
dbSNP Id:
rs2146025420
MyVariant Identifiers:
chr19:g.7594481C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529595C>T , CM000681.2:g.7529595C>T | GRCh38 |
| NC_000019.9:g.7594481C>T , CM000681.1:g.7594481C>T | GRCh37 |
| NC_000019.8:g.7500481C>T | NCBI36 |
| NG_013374.1:g.444C>T | |
| NG_015806.1:g.11986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1242C>T MANE Select | ENSP00000264079.5:p.Leu414= | |
| ENST00000264079.10:c.1242C>T | ENSP00000264079.5:p.Leu414= | |
| ENST00000394321.9:n.1557C>T | ||
| ENST00000594692.1:n.238C>T | ||
| ENST00000595860.5:n.425C>T | ||
| ENST00000599334.1:c.119C>T | ||
| NM_020533.2:c.1242C>T | NP_065394.1:p.Leu414= | |
| NM_020533.3:c.1242C>T MANE Select | NP_065394.1:p.Leu414= |