Linked Data
dbSNP Id:
rs779038197
ExAC:
16:223489 C / A
gnomAD v2:
16-223489-C-A
gnomAD v4:
16-173490-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173490C>A , CM000678.2:g.173490C>A | GRCh38 |
| NC_000016.9:g.223489C>A , CM000678.1:g.223489C>A | GRCh37 |
| NC_000016.8:g.163489C>A | NCBI36 |
| NG_000006.1:g.34353C>A | |
| NG_059186.1:g.1840C>A | |
| NG_059271.1:g.5644C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.319C>A MANE Select | ENSP00000251595.6:p.Leu107Met | |
| ENST00000251595.10:c.319C>A | ENSP00000251595.6:p.Leu107Met | |
| ENST00000397806.1:c.223C>A | ENSP00000380908.1:p.Leu75Met | |
| ENST00000482565.1:n.455C>A | ||
| NM_000517.4:c.319C>A | NP_000508.1:p.Leu107Met | |
| NM_000517.6:c.319C>A MANE Select | NP_000508.1:p.Leu107Met |