Linked Data
dbSNP Id:
rs281864837
gnomAD v2:
16-223182-G-A
gnomAD v3:
16-173183-G-A
gnomAD v4:
16-173183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173183G>A , CM000678.2:g.173183G>A | GRCh38 |
| NC_000016.9:g.223182G>A , CM000678.1:g.223182G>A | GRCh37 |
| NC_000016.8:g.163182G>A | NCBI36 |
| NG_000006.1:g.34046G>A | |
| NG_059186.1:g.1533G>A | |
| NG_059271.1:g.5337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.154G>A MANE Select | ENSP00000251595.6:p.Gly52Ser | |
| ENST00000251595.10:c.154G>A | ENSP00000251595.6:p.Gly52Ser | |
| ENST00000397806.1:c.58G>A | ENSP00000380908.1:p.Gly20Ser | |
| ENST00000482565.1:n.290G>A | ||
| ENST00000484216.1:n.123G>A | ||
| NM_000517.4:c.154G>A | NP_000508.1:p.Gly52Ser | |
| NM_000517.6:c.154G>A MANE Select | NP_000508.1:p.Gly52Ser |