Linked Data
ClinVar Variation Id:
811488
dbSNP Id:
rs41515552
gnomAD v2:
16-223127-G-A
gnomAD v3:
16-173128-G-A
gnomAD v4:
16-173128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173128G>A , CM000678.2:g.173128G>A | GRCh38 |
| NC_000016.9:g.223127G>A , CM000678.1:g.223127G>A | GRCh37 |
| NC_000016.8:g.163127G>A | NCBI36 |
| NG_000006.1:g.33991G>A | |
| NG_059186.1:g.1478G>A | |
| NG_059271.1:g.5282G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.99G>A MANE Select | ENSP00000251595.6:p.Met33Ile | |
| ENST00000251595.10:c.99G>A | ENSP00000251595.6:p.Met33Ile | |
| ENST00000397806.1:c.3G>A | ENSP00000380908.1:p.Met1Ile | |
| ENST00000482565.1:n.235G>A | ||
| ENST00000484216.1:n.68G>A | ||
| NM_000517.4:c.99G>A | NP_000508.1:p.Met33Ile | |
| NM_000517.6:c.99G>A MANE Select | NP_000508.1:p.Met33Ile |