Linked Data
ClinVar Variation Id:
2899113
ClinVar RCV Id:
RCV003651367
dbSNP Id:
rs1488459981
gnomAD v4:
14-49625557-T-C
MyVariant Identifiers:
chr14:g.50092275T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49625557T>C , CM000676.2:g.49625557T>C | GRCh38 |
| NC_000014.8:g.50092275T>C , CM000676.1:g.50092275T>C | GRCh37 |
| NC_000014.7:g.49162025T>C | NCBI36 |
| NG_013070.1:g.14674A>G | |
| NG_033054.1:g.75A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.2499A>G MANE Select | ENSP00000298292.8:p.Leu833= | |
| ENST00000298292.12:c.2499A>G | ENSP00000298292.8:p.Leu833= | |
| ENST00000406043.3:c.2355A>G | ENSP00000384862.3:p.Leu785= | |
| NM_001083908.1:c.2355A>G | NP_001077377.1:p.Leu785= | |
| NM_018139.2:c.2499A>G | NP_060609.2:p.Leu833= | |
| NM_001083908.2:c.2355A>G | NP_001077377.1:p.Leu785= | |
| NM_001378453.1:c.288A>G | NP_001365382.1:p.Leu96= | |
| NM_018139.3:c.2499A>G MANE Select | NP_060609.2:p.Leu833= |