Linked Data
dbSNP Id:
rs759075190
ExAC:
16:223446 C / G
gnomAD v2:
16-223446-C-G
gnomAD v4:
16-173447-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173447C>G , CM000678.2:g.173447C>G | GRCh38 |
| NC_000016.9:g.223446C>G , CM000678.1:g.223446C>G | GRCh37 |
| NC_000016.8:g.163446C>G | NCBI36 |
| NG_000006.1:g.34310C>G | |
| NG_059186.1:g.1797C>G | |
| NG_059271.1:g.5601C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.301-25C>G MANE Select | ENSP00000251595.6:n.301-25C>G | |
| ENST00000251595.10:c.301-25C>G | ENSP00000251595.6:n.301-25C>G | |
| ENST00000397806.1:c.205-25C>G | ENSP00000380908.1:n.205-25C>G | |
| ENST00000482565.1:n.437-25C>G | ||
| ENST00000484216.1:n.387C>G | ||
| NM_000517.4:c.301-25C>G | NP_000508.1:n.301-25C>G | |
| NM_000517.6:c.301-25C>G MANE Select | NP_000508.1:n.301-25C>G |