Linked Data
dbSNP Id:
rs372299377
ExAC:
17:6684049 T / C
gnomAD v2:
17-6684049-T-C
gnomAD v4:
17-6780730-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780730T>C , CM000679.2:g.6780730T>C | GRCh38 |
| NC_000017.10:g.6684049T>C , CM000679.1:g.6684049T>C | GRCh37 |
| NC_000017.9:g.6624773T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.862T>C MANE Select | ENSP00000321386.4:p.Phe288Leu | |
| ENST00000321535.4:c.862T>C | ENSP00000321386.4:p.Phe288Leu | |
| NM_153230.2:c.862T>C | NP_694962.1:p.Phe288Leu | |
| XM_011523697.1:c.862T>C | XP_011521999.1:p.Phe288Leu | |
| XR_243544.3:n.1040T>C | ||
| NM_153230.3:c.862T>C MANE Select | NP_694962.1:p.Phe288Leu |