Linked Data
dbSNP Id:
rs749929571
ExAC:
6:52329779 C / T
gnomAD v2:
6-52329779-C-T
gnomAD v4:
6-52464981-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52464981C>T , CM000668.2:g.52464981C>T | GRCh38 |
| NC_000006.11:g.52329779C>T , CM000668.1:g.52329779C>T | GRCh37 |
| NC_000006.10:g.52437738C>T | NCBI36 |
| NG_016760.1:g.49786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1003C>T MANE Select | ENSP00000360107.4:p.Leu335Phe | |
| ENST00000480623.6:c.1003C>T | ENSP00000434498.2:p.Leu335Phe | |
| ENST00000635760.1:c.679C>T | ENSP00000489765.1:p.Leu227Phe | |
| ENST00000635812.1:c.*304C>T | ENSP00000490859.1:n.*304C>T | |
| ENST00000635866.1:c.*872C>T | ENSP00000489866.1:n.*872C>T | |
| ENST00000635911.1:n.2521C>T | ||
| ENST00000635984.1:c.679C>T | ENSP00000489921.1:p.Leu227Phe | |
| ENST00000635996.1:c.1003C>T | ENSP00000490256.1:p.Leu335Phe | |
| ENST00000636107.1:c.1003C>T | ENSP00000489680.1:p.Leu335Phe | |
| ENST00000636311.1:n.897C>T | ||
| ENST00000636343.1:c.669C>T | ||
| ENST00000636379.1:c.715C>T | ENSP00000490622.1:p.Leu239Phe | |
| ENST00000636398.1:c.703C>T | ENSP00000489654.1:n.703C>T | |
| ENST00000636489.1:c.946C>T | ENSP00000489998.1:p.Leu316Phe | |
| ENST00000636616.1:n.619C>T | ||
| ENST00000636702.1:c.973C>T | ENSP00000489623.1:p.Leu325Phe | |
| ENST00000636954.1:c.946C>T | ENSP00000489966.1:p.Leu316Phe | |
| ENST00000637089.1:c.1003C>T | ENSP00000489854.1:p.Leu335Phe | |
| ENST00000637263.1:c.1003C>T | ENSP00000489700.1:p.Leu335Phe | |
| ENST00000637340.1:n.2928C>T | ||
| ENST00000637353.1:c.1003C>T | ENSP00000490441.1:p.Leu335Phe | |
| ENST00000637602.1:c.*704C>T | ENSP00000490074.1:n.*704C>T | |
| ENST00000637849.1:n.1067C>T | ||
| ENST00000637874.1:c.83-4352C>T | ENSP00000490348.1:n.83-4352C>T | |
| ENST00000637892.1:n.1207C>T | ||
| ENST00000371068.9:c.1003C>T | ENSP00000360107.4:p.Leu335Phe | |
| ENST00000480623.5:c.*1423C>T | ENSP00000434498.1:n.*1423C>T | |
| ENST00000538167.2:c.946C>T | ENSP00000444521.1:p.Leu316Phe | |
| NM_001172420.1:c.946C>T | NP_001165891.1:p.Leu316Phe | |
| NM_018100.3:c.1003C>T | NP_060570.2:p.Leu335Phe | |
| NR_033327.1:n.2475C>T | ||
| NM_018100.4:c.1003C>T MANE Select | NP_060570.2:p.Leu335Phe | |
| NM_001172420.2:c.946C>T | NP_001165891.1:p.Leu316Phe | |
| NR_033327.2:n.2329C>T |