Linked Data
dbSNP Id:
rs746872537
ExAC:
16:28911916 C / A
gnomAD v2:
16-28911916-C-A
gnomAD v4:
16-28900595-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28900595C>A , CM000678.2:g.28900595C>A | GRCh38 |
| NC_000016.9:g.28911916C>A , CM000678.1:g.28911916C>A | GRCh37 |
| NC_000016.8:g.28819417C>A | NCBI36 |
| NG_023327.1:g.27108C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395503.9:c.1779C>A MANE Select | ENSP00000378879.5:p.Phe593Leu | |
| ENST00000357084.7:c.1779C>A | ENSP00000349595.3:p.Phe593Leu | |
| ENST00000395503.8:c.1779C>A | ENSP00000378879.4:p.Phe593Leu | |
| ENST00000536376.5:c.1404C>A | ENSP00000443101.1:p.Phe468Leu | |
| ENST00000564732.1:c.808C>A | ||
| NM_001286075.1:c.1404C>A | NP_001273004.1:p.Phe468Leu | |
| NM_004320.4:c.1779C>A | NP_004311.1:p.Phe593Leu | |
| NM_173201.3:c.1779C>A | NP_775293.1:p.Phe593Leu | |
| NM_004320.6:c.1779C>A MANE Select | NP_004311.1:p.Phe593Leu | |
| NM_173201.4:c.1779C>A | NP_775293.1:p.Phe593Leu | |
| NM_001286075.2:c.1404C>A | NP_001273004.1:p.Phe468Leu | |
| NM_173201.5:c.1779C>A | NP_775293.1:p.Phe593Leu |