Linked Data
dbSNP Id:
rs1479742437
gnomAD v4:
19-616042-C-G
MyVariant Identifiers:
chr19:g.616042C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.616042C>G , CM000681.2:g.616042C>G | GRCh38 |
| NC_000019.9:g.616042C>G , CM000681.1:g.616042C>G | GRCh37 |
| NC_000019.8:g.567042C>G | NCBI36 |
| NG_023049.1:g.22527G>C | |
| NG_052810.1:g.31150C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2238C>G MANE Select | ENSP00000251287.1:p.Leu746= | |
| ENST00000251287.2:c.2238C>G | ENSP00000251287.1:p.Leu746= | |
| NM_001194.3:c.2238C>G | NP_001185.3:p.Leu746= | |
| NM_001194.4:c.2238C>G MANE Select | NP_001185.3:p.Leu746= |