Linked Data
ClinVar Variation Id:
1100080
ClinVar RCV Id:
RCV001422593
dbSNP Id:
rs775399085
ExAC:
19:7589950 C / G
gnomAD v2:
19-7589950-C-G
gnomAD v4:
19-7525064-C-G
COSMIC:
COSM569019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525064C>G , CM000681.2:g.7525064C>G | GRCh38 |
| NC_000019.9:g.7589950C>G , CM000681.1:g.7589950C>G | GRCh37 |
| NC_000019.8:g.7495950C>G | NCBI36 |
| NG_015806.1:g.7455C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.135C>G MANE Select | ENSP00000264079.5:p.Leu45= | |
| ENST00000264079.10:c.135C>G | ENSP00000264079.5:p.Leu45= | |
| ENST00000394321.9:n.215C>G | ||
| ENST00000596390.1:n.251C>G | ||
| ENST00000601003.1:c.135C>G | ENSP00000469074.1:p.Leu45= | |
| NM_020533.2:c.135C>G | NP_065394.1:p.Leu45= | |
| NM_020533.3:c.135C>G MANE Select | NP_065394.1:p.Leu45= |