Linked Data
dbSNP Id:
rs752788128
ExAC:
16:223493 T / C
gnomAD v2:
16-223493-T-C
gnomAD v4:
16-173494-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173494T>C , CM000678.2:g.173494T>C | GRCh38 |
| NC_000016.9:g.223493T>C , CM000678.1:g.223493T>C | GRCh37 |
| NC_000016.8:g.163493T>C | NCBI36 |
| NG_000006.1:g.34357T>C | |
| NG_059186.1:g.1844T>C | |
| NG_059271.1:g.5648T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.323T>C MANE Select | ENSP00000251595.6:p.Val108Ala | |
| ENST00000251595.10:c.323T>C | ENSP00000251595.6:p.Val108Ala | |
| ENST00000397806.1:c.227T>C | ENSP00000380908.1:p.Val76Ala | |
| ENST00000482565.1:n.459T>C | ||
| NM_000517.4:c.323T>C | NP_000508.1:p.Val108Ala | |
| NM_000517.6:c.323T>C MANE Select | NP_000508.1:p.Val108Ala |