Linked Data
dbSNP Id:
rs374396930
ExAC:
16:223435 C / A
gnomAD v2:
16-223435-C-A
gnomAD v3:
16-173436-C-A
gnomAD v4:
16-173436-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173436C>A , CM000678.2:g.173436C>A | GRCh38 |
| NC_000016.9:g.223435C>A , CM000678.1:g.223435C>A | GRCh37 |
| NC_000016.8:g.163435C>A | NCBI36 |
| NG_000006.1:g.34299C>A | |
| NG_059186.1:g.1786C>A | |
| NG_059271.1:g.5590C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.301-36C>A MANE Select | ENSP00000251595.6:n.301-36C>A | |
| ENST00000251595.10:c.301-36C>A | ENSP00000251595.6:n.301-36C>A | |
| ENST00000397806.1:c.205-36C>A | ENSP00000380908.1:n.205-36C>A | |
| ENST00000482565.1:n.437-36C>A | ||
| ENST00000484216.1:n.376C>A | ||
| NM_000517.4:c.301-36C>A | NP_000508.1:n.301-36C>A | |
| NM_000517.6:c.301-36C>A MANE Select | NP_000508.1:n.301-36C>A |