Linked Data
dbSNP Id:
rs373861134
ExAC:
16:223356 G / A
gnomAD v2:
16-223356-G-A
gnomAD v3:
16-173357-G-A
gnomAD v4:
16-173357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173357G>A , CM000678.2:g.173357G>A | GRCh38 |
| NC_000016.9:g.223356G>A , CM000678.1:g.223356G>A | GRCh37 |
| NC_000016.8:g.163356G>A | NCBI36 |
| NG_000006.1:g.34220G>A | |
| NG_059186.1:g.1707G>A | |
| NG_059271.1:g.5511G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+28G>A MANE Select | ENSP00000251595.6:n.300+28G>A | |
| ENST00000251595.10:c.300+28G>A | ENSP00000251595.6:n.300+28G>A | |
| ENST00000397806.1:c.204+28G>A | ENSP00000380908.1:n.204+28G>A | |
| ENST00000482565.1:n.436+28G>A | ||
| ENST00000484216.1:n.297G>A | ||
| NM_000517.4:c.300+28G>A | NP_000508.1:n.300+28G>A | |
| NM_000517.6:c.300+28G>A MANE Select | NP_000508.1:n.300+28G>A |