Linked Data
dbSNP Id:
rs142133872
ExAC:
17:72691941 C / T
gnomAD v2:
17-72691941-C-T
gnomAD v3:
17-74695802-C-T
gnomAD v4:
17-74695802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74695802C>T , CM000679.2:g.74695802C>T | GRCh38 |
| NC_000017.10:g.72691941C>T , CM000679.1:g.72691941C>T | GRCh37 |
| NC_000017.9:g.70203536C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326165.11:c.640G>A (CD300LF) MANE Select | ENSP00000327075.6:p.Gly214Arg | |
| ENST00000301573.13:c.686G>A (CD300LF) | ENSP00000301573.9:p.Arg229Gln | |
| ENST00000326165.10:c.640G>A (CD300LF) | ENSP00000327075.6:p.Gly214Arg | |
| ENST00000340415.7:c.72+24144C>T (RAB37) | ENSP00000341354.3:n.72+24144C>T | |
| ENST00000343125.8:c.536G>A (CD300LF) | ENSP00000343751.4:p.Arg179Gln | |
| ENST00000361254.8:c.671G>A (CD300LF) | ENSP00000355294.4:p.Arg224Gln | |
| ENST00000392617.7:n.479+24144C>T (RAB37) | ||
| ENST00000402449.8:c.72+24144C>T (RAB37) | ENSP00000383934.4:n.72+24144C>T | |
| ENST00000462044.5:c.*15G>A (CD300LF) | ENSP00000464223.1:n.*15G>A | |
| ENST00000464910.5:c.649G>A (CD300LF) | ENSP00000464257.1:p.Gly217Arg | |
| ENST00000469092.5:c.536G>A (CD300LF) | ENSP00000463743.1:p.Arg179Gln | |
| ENST00000581500.1:c.671G>A (CD300LF) | ENSP00000464610.1:p.Arg224Gln | |
| ENST00000583937.5:c.685G>A (CD300LF) | ENSP00000462309.1:p.Gly229Arg | |
| NM_001289082.1:c.536G>A (CD300LF) | NP_001276011.1:p.Arg179Gln | |
| NM_001289083.1:c.686G>A (CD300LF) | NP_001276012.1:p.Arg229Gln | |
| NM_001289084.1:c.685G>A (CD300LF) | NP_001276013.1:p.Gly229Arg | |
| NM_001289085.1:c.649G>A (CD300LF) | NP_001276014.1:p.Gly217Arg | |
| NM_001289086.1:c.671G>A (CD300LF) | NP_001276015.1:p.Arg224Gln | |
| NM_001289087.1:c.617G>A (CD300LF) | NP_001276016.1:p.Arg206Gln | |
| NM_139018.4:c.640G>A (CD300LF) | NP_620587.2:p.Gly214Arg | |
| NM_175738.4:c.72+24144C>T (RAB37) | NP_783865.1:n.72+24144C>T | |
| NR_110298.1:n.812G>A (CD300LF) | ||
| XM_011524369.1:c.772G>A (CD300LF) | XP_011522671.1:p.Gly258Arg | |
| XM_011524370.1:c.763G>A (CD300LF) | XP_011522672.1:p.Gly255Arg | |
| XM_011524371.1:c.763G>A (CD300LF) | XP_011522673.1:p.Gly255Arg | |
| XM_011524372.1:c.727G>A (CD300LF) | XP_011522674.1:p.Gly243Arg | |
| XM_011524373.1:c.718G>A (CD300LF) | XP_011522675.1:p.Gly240Arg | |
| XM_011524374.1:c.718G>A (CD300LF) | XP_011522676.1:p.Gly240Arg | |
| XM_011524375.1:c.694G>A (CD300LF) | XP_011522677.1:p.Gly232Arg | |
| XM_011524376.1:c.749G>A (CD300LF) | XP_011522678.1:p.Arg250Gln | |
| XM_011524377.1:c.749G>A (CD300LF) | XP_011522679.1:p.Arg250Gln | |
| XM_011524378.1:c.740G>A (CD300LF) | XP_011522680.1:p.Arg247Gln | |
| XM_011524379.1:c.704G>A (CD300LF) | XP_011522681.1:p.Arg235Gln | |
| XM_017024212.2:c.697G>A (CD300LF) | XP_016879701.1:p.Gly233Arg | |
| XM_017024213.2:c.752G>A (CD300LF) | XP_016879702.1:p.Arg251Gln | |
| XM_017024214.2:c.743G>A (CD300LF) | XP_016879703.1:p.Arg248Gln | |
| XM_017024215.1:c.695G>A (CD300LF) | XP_016879704.1:p.Arg232Gln | |
| XM_017024216.2:c.674G>A (CD300LF) | XP_016879705.1:p.Arg225Gln | |
| XM_017024217.2:c.662G>A (CD300LF) | XP_016879706.1:p.Arg221Gln | |
| NM_139018.5:c.640G>A (CD300LF) MANE Select | NP_620587.2:p.Gly214Arg | |
| NM_001289082.2:c.536G>A (CD300LF) | NP_001276011.1:p.Arg179Gln | |
| NM_001289083.2:c.686G>A (CD300LF) | NP_001276012.1:p.Arg229Gln | |
| NM_001289084.2:c.685G>A (CD300LF) | NP_001276013.1:p.Gly229Arg | |
| NM_001289085.2:c.649G>A (CD300LF) | NP_001276014.1:p.Gly217Arg | |
| NM_001289086.2:c.671G>A (CD300LF) | NP_001276015.1:p.Arg224Gln | |
| NM_001289087.2:c.617G>A (CD300LF) | NP_001276016.1:p.Arg206Gln | |
| NM_175738.5:c.72+24144C>T (RAB37) | NP_783865.1:n.72+24144C>T | |
| NR_110298.2:n.735G>A (CD300LF) |