Linked Data
ClinVar Variation Id:
993104
ClinVar RCV Id:
RCV001284144
dbSNP Id:
rs373693318
ExAC:
16:223362 G / A
gnomAD v2:
16-223362-G-A
gnomAD v3:
16-173363-G-A
gnomAD v4:
16-173363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173363G>A , CM000678.2:g.173363G>A | GRCh38 |
| NC_000016.9:g.223362G>A , CM000678.1:g.223362G>A | GRCh37 |
| NC_000016.8:g.163362G>A | NCBI36 |
| NG_000006.1:g.34226G>A | |
| NG_059186.1:g.1713G>A | |
| NG_059271.1:g.5517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+34G>A MANE Select | ENSP00000251595.6:n.300+34G>A | |
| ENST00000251595.10:c.300+34G>A | ENSP00000251595.6:n.300+34G>A | |
| ENST00000397806.1:c.204+34G>A | ENSP00000380908.1:n.204+34G>A | |
| ENST00000482565.1:n.436+34G>A | ||
| ENST00000484216.1:n.303G>A | ||
| NM_000517.4:c.300+34G>A | NP_000508.1:n.300+34G>A | |
| NM_000517.6:c.300+34G>A MANE Select | NP_000508.1:n.300+34G>A |