Linked Data
dbSNP Id:
rs770439837
ExAC:
10:124266261 T / C
gnomAD v2:
10-124266261-T-C
gnomAD v4:
10-122506745-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506745T>C , CM000672.2:g.122506745T>C | GRCh38 |
| NC_000010.10:g.124266261T>C , CM000672.1:g.124266261T>C | GRCh37 |
| NC_000010.9:g.124256251T>C | NCBI36 |
| NG_011554.1:g.50221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.832T>C MANE Select | ENSP00000357980.3:p.Phe278Leu | |
| ENST00000648167.1:c.514T>C | ENSP00000498033.1:p.Phe172Leu | |
| ENST00000368984.7:c.832T>C | ENSP00000357980.3:p.Phe278Leu | |
| ENST00000420892.1:c.55T>C | ENSP00000412676.1:p.Phe19Leu | |
| NM_002775.4:c.832T>C | NP_002766.1:p.Phe278Leu | |
| NM_002775.5:c.832T>C MANE Select | NP_002766.1:p.Phe278Leu |