Linked Data
dbSNP Id:
rs1260916000
gnomAD v2:
1-40313232-G-A
gnomAD v3:
1-39847560-G-A
gnomAD v4:
1-39847560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847560G>A , CM000663.2:g.39847560G>A | GRCh38 |
| NC_000001.10:g.40313232G>A , CM000663.1:g.40313232G>A | GRCh37 |
| NC_000001.9:g.40085819G>A | NCBI36 |
| NG_042822.1:g.40952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.916C>T MANE Select | ENSP00000321810.5:p.Leu306Phe | |
| ENST00000648678.1:c.1808C>T | ENSP00000497805.1:n.1808C>T | |
| ENST00000316891.9:c.916C>T | ENSP00000321810.5:p.Leu306Phe | |
| ENST00000372818.5:c.916C>T | ENSP00000361905.1:p.Leu306Phe | |
| ENST00000441669.6:c.670C>T | ENSP00000388333.2:p.Leu224Phe | |
| ENST00000462797.5:c.916C>T | ENSP00000473773.1:p.Leu306Phe | |
| ENST00000465417.5:n.113-263C>T | ||
| ENST00000467774.1:n.198C>T | ||
| ENST00000486825.6:c.821C>T | ||
| ENST00000489945.5:c.*334C>T | ENSP00000473745.1:n.*334C>T | |
| ENST00000491865.5:n.164-263C>T | ||
| ENST00000492612.6:c.760C>T | ||
| ENST00000495175.6:c.*338C>T | ENSP00000474264.1:n.*338C>T | |
| ENST00000537440.5:c.17-263C>T | ENSP00000437700.1:n.17-263C>T | |
| ENST00000541099.5:c.-140-2920C>T | ENSP00000437896.1:n.-140-2920C>T | |
| NM_001312691.1:c.916C>T | NP_001299620.1:p.Leu306Phe | |
| NM_001312692.1:c.670C>T | NP_001299621.1:p.Leu224Phe | |
| NM_017646.4:c.916C>T | NP_060116.2:p.Leu306Phe | |
| NM_017646.5:c.916C>T | NP_060116.2:p.Leu306Phe | |
| NR_132401.1:n.932C>T | ||
| NR_132402.1:n.790C>T | ||
| NR_132403.1:n.786C>T | ||
| NR_132404.1:n.786C>T | ||
| NR_132405.1:n.782C>T | ||
| NR_132406.1:n.686-263C>T | ||
| NR_132407.1:n.550C>T | ||
| NR_132408.1:n.546C>T | ||
| NR_132409.1:n.407C>T | ||
| NR_132410.1:n.446-263C>T | ||
| NR_132412.1:n.307-263C>T | ||
| NR_132413.1:n.195-2920C>T | ||
| NR_132414.1:n.195-5647C>T | ||
| NR_132415.1:n.1023C>T | ||
| XM_005270954.1:c.673C>T | XP_005271011.1:p.Leu225Phe | |
| XM_006710706.1:c.493C>T | XP_006710769.1:p.Leu165Phe | |
| XM_005270954.2:c.673C>T | XP_005271011.1:p.Leu225Phe | |
| XR_946672.2:n.1016C>T | ||
| NM_017646.6:c.916C>T MANE Select | NP_060116.2:p.Leu306Phe |