Linked Data
dbSNP Id:
rs757186207
ExAC:
19:616043 G / C
gnomAD v2:
19-616043-G-C
gnomAD v4:
19-616043-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.616043G>C , CM000681.2:g.616043G>C | GRCh38 |
| NC_000019.9:g.616043G>C , CM000681.1:g.616043G>C | GRCh37 |
| NC_000019.8:g.567043G>C | NCBI36 |
| NG_023049.1:g.22526C>G | |
| NG_052810.1:g.31151G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2239G>C MANE Select | ENSP00000251287.1:p.Val747Leu | |
| ENST00000251287.2:c.2239G>C | ENSP00000251287.1:p.Val747Leu | |
| NM_001194.3:c.2239G>C | NP_001185.3:p.Val747Leu | |
| NM_001194.4:c.2239G>C MANE Select | NP_001185.3:p.Val747Leu |