Linked Data
dbSNP Id:
rs767379262
ExAC:
17:72691904 G / A
gnomAD v2:
17-72691904-G-A
gnomAD v4:
17-74695765-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74695765G>A , CM000679.2:g.74695765G>A | GRCh38 |
| NC_000017.10:g.72691904G>A , CM000679.1:g.72691904G>A | GRCh37 |
| NC_000017.9:g.70203499G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326165.11:c.677C>T (CD300LF) MANE Select | ENSP00000327075.6:p.Ser226Phe | |
| ENST00000301573.13:c.723C>T (CD300LF) | ENSP00000301573.9:p.Leu241= | |
| ENST00000326165.10:c.677C>T (CD300LF) | ENSP00000327075.6:p.Ser226Phe | |
| ENST00000340415.7:c.72+24107G>A (RAB37) | ENSP00000341354.3:n.72+24107G>A | |
| ENST00000343125.8:c.573C>T (CD300LF) | ENSP00000343751.4:p.Leu191= | |
| ENST00000361254.8:c.708C>T (CD300LF) | ENSP00000355294.4:p.Leu236= | |
| ENST00000392617.7:n.479+24107G>A (RAB37) | ||
| ENST00000402449.8:c.72+24107G>A (RAB37) | ENSP00000383934.4:n.72+24107G>A | |
| ENST00000462044.5:c.*52C>T (CD300LF) | ENSP00000464223.1:n.*52C>T | |
| ENST00000464910.5:c.686C>T (CD300LF) | ENSP00000464257.1:p.Ser229Phe | |
| ENST00000469092.5:c.573C>T (CD300LF) | ENSP00000463743.1:p.Leu191= | |
| ENST00000581500.1:c.708C>T (CD300LF) | ENSP00000464610.1:p.Leu236= | |
| ENST00000583937.5:c.722C>T (CD300LF) | ENSP00000462309.1:p.Ser241Phe | |
| NM_001289082.1:c.573C>T (CD300LF) | NP_001276011.1:p.Leu191= | |
| NM_001289083.1:c.723C>T (CD300LF) | NP_001276012.1:p.Leu241= | |
| NM_001289084.1:c.722C>T (CD300LF) | NP_001276013.1:p.Ser241Phe | |
| NM_001289085.1:c.686C>T (CD300LF) | NP_001276014.1:p.Ser229Phe | |
| NM_001289086.1:c.708C>T (CD300LF) | NP_001276015.1:p.Leu236= | |
| NM_001289087.1:c.654C>T (CD300LF) | NP_001276016.1:p.Leu218= | |
| NM_139018.4:c.677C>T (CD300LF) | NP_620587.2:p.Ser226Phe | |
| NM_175738.4:c.72+24107G>A (RAB37) | NP_783865.1:n.72+24107G>A | |
| NR_110298.1:n.849C>T (CD300LF) | ||
| XM_011524369.1:c.809C>T (CD300LF) | XP_011522671.1:p.Ser270Phe | |
| XM_011524370.1:c.800C>T (CD300LF) | XP_011522672.1:p.Ser267Phe | |
| XM_011524371.1:c.800C>T (CD300LF) | XP_011522673.1:p.Ser267Phe | |
| XM_011524372.1:c.764C>T (CD300LF) | XP_011522674.1:p.Ser255Phe | |
| XM_011524373.1:c.755C>T (CD300LF) | XP_011522675.1:p.Ser252Phe | |
| XM_011524374.1:c.755C>T (CD300LF) | XP_011522676.1:p.Ser252Phe | |
| XM_011524375.1:c.731C>T (CD300LF) | XP_011522677.1:p.Ser244Phe | |
| XM_011524376.1:c.786C>T (CD300LF) | XP_011522678.1:p.Leu262= | |
| XM_011524377.1:c.786C>T (CD300LF) | XP_011522679.1:p.Leu262= | |
| XM_011524378.1:c.777C>T (CD300LF) | XP_011522680.1:p.Leu259= | |
| XM_011524379.1:c.741C>T (CD300LF) | XP_011522681.1:p.Leu247= | |
| XM_017024212.2:c.734C>T (CD300LF) | XP_016879701.1:p.Ser245Phe | |
| XM_017024213.2:c.789C>T (CD300LF) | XP_016879702.1:p.Leu263= | |
| XM_017024214.2:c.780C>T (CD300LF) | XP_016879703.1:p.Leu260= | |
| XM_017024215.1:c.732C>T (CD300LF) | XP_016879704.1:p.Leu244= | |
| XM_017024216.2:c.711C>T (CD300LF) | XP_016879705.1:p.Leu237= | |
| XM_017024217.2:c.699C>T (CD300LF) | XP_016879706.1:p.Leu233= | |
| NM_139018.5:c.677C>T (CD300LF) MANE Select | NP_620587.2:p.Ser226Phe | |
| NM_001289082.2:c.573C>T (CD300LF) | NP_001276011.1:p.Leu191= | |
| NM_001289083.2:c.723C>T (CD300LF) | NP_001276012.1:p.Leu241= | |
| NM_001289084.2:c.722C>T (CD300LF) | NP_001276013.1:p.Ser241Phe | |
| NM_001289085.2:c.686C>T (CD300LF) | NP_001276014.1:p.Ser229Phe | |
| NM_001289086.2:c.708C>T (CD300LF) | NP_001276015.1:p.Leu236= | |
| NM_001289087.2:c.654C>T (CD300LF) | NP_001276016.1:p.Leu218= | |
| NM_175738.5:c.72+24107G>A (RAB37) | NP_783865.1:n.72+24107G>A | |
| NR_110298.2:n.772C>T (CD300LF) |