Linked Data
dbSNP Id:
rs1902048356
gnomAD v4:
16-173245-G-A
MyVariant Identifiers:
chr16:g.223244G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173245G>A , CM000678.2:g.173245G>A | GRCh38 |
| NC_000016.9:g.223244G>A , CM000678.1:g.223244G>A | GRCh37 |
| NC_000016.8:g.163244G>A | NCBI36 |
| NG_000006.1:g.34108G>A | |
| NG_059186.1:g.1595G>A | |
| NG_059271.1:g.5399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.216G>A MANE Select | ENSP00000251595.6:p.Ala72= | |
| ENST00000251595.10:c.216G>A | ENSP00000251595.6:p.Ala72= | |
| ENST00000397806.1:c.120G>A | ENSP00000380908.1:p.Ala40= | |
| ENST00000482565.1:n.352G>A | ||
| ENST00000484216.1:n.185G>A | ||
| NM_000517.4:c.216G>A | NP_000508.1:p.Ala72= | |
| NM_000517.6:c.216G>A MANE Select | NP_000508.1:p.Ala72= |