Linked Data
dbSNP Id:
rs2032408709
gnomAD v4:
17-74695830-G-A
MyVariant Identifiers:
chr17:g.72691969G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74695830G>A , CM000679.2:g.74695830G>A | GRCh38 |
| NC_000017.10:g.72691969G>A , CM000679.1:g.72691969G>A | GRCh37 |
| NC_000017.9:g.70203564G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326165.11:c.612C>T (CD300LF) MANE Select | ENSP00000327075.6:p.Cys204= | |
| ENST00000301573.13:c.658C>T (CD300LF) | ENSP00000301573.9:p.Leu220= | |
| ENST00000326165.10:c.612C>T (CD300LF) | ENSP00000327075.6:p.Cys204= | |
| ENST00000340415.7:c.72+24172G>A (RAB37) | ENSP00000341354.3:n.72+24172G>A | |
| ENST00000343125.8:c.508C>T (CD300LF) | ENSP00000343751.4:p.Leu170= | |
| ENST00000361254.8:c.643C>T (CD300LF) | ENSP00000355294.4:p.Leu215= | |
| ENST00000392617.7:n.479+24172G>A (RAB37) | ||
| ENST00000402449.8:c.72+24172G>A (RAB37) | ENSP00000383934.4:n.72+24172G>A | |
| ENST00000462044.5:c.485C>T (CD300LF) | ENSP00000464223.1:p.Ala162Val | |
| ENST00000464910.5:c.621C>T (CD300LF) | ENSP00000464257.1:p.Cys207= | |
| ENST00000469092.5:c.508C>T (CD300LF) | ENSP00000463743.1:p.Leu170= | |
| ENST00000581500.1:c.643C>T (CD300LF) | ENSP00000464610.1:p.Leu215= | |
| ENST00000583937.5:c.657C>T (CD300LF) | ENSP00000462309.1:p.Cys219= | |
| NM_001289082.1:c.508C>T (CD300LF) | NP_001276011.1:p.Leu170= | |
| NM_001289083.1:c.658C>T (CD300LF) | NP_001276012.1:p.Leu220= | |
| NM_001289084.1:c.657C>T (CD300LF) | NP_001276013.1:p.Cys219= | |
| NM_001289085.1:c.621C>T (CD300LF) | NP_001276014.1:p.Cys207= | |
| NM_001289086.1:c.643C>T (CD300LF) | NP_001276015.1:p.Leu215= | |
| NM_001289087.1:c.589C>T (CD300LF) | NP_001276016.1:p.Leu197= | |
| NM_139018.4:c.612C>T (CD300LF) | NP_620587.2:p.Cys204= | |
| NM_175738.4:c.72+24172G>A (RAB37) | NP_783865.1:n.72+24172G>A | |
| NR_110298.1:n.784C>T (CD300LF) | ||
| XM_011524369.1:c.744C>T (CD300LF) | XP_011522671.1:p.Cys248= | |
| XM_011524370.1:c.735C>T (CD300LF) | XP_011522672.1:p.Cys245= | |
| XM_011524371.1:c.735C>T (CD300LF) | XP_011522673.1:p.Cys245= | |
| XM_011524372.1:c.699C>T (CD300LF) | XP_011522674.1:p.Cys233= | |
| XM_011524373.1:c.690C>T (CD300LF) | XP_011522675.1:p.Cys230= | |
| XM_011524374.1:c.690C>T (CD300LF) | XP_011522676.1:p.Cys230= | |
| XM_011524375.1:c.666C>T (CD300LF) | XP_011522677.1:p.Cys222= | |
| XM_011524376.1:c.721C>T (CD300LF) | XP_011522678.1:p.Leu241= | |
| XM_011524377.1:c.721C>T (CD300LF) | XP_011522679.1:p.Leu241= | |
| XM_011524378.1:c.712C>T (CD300LF) | XP_011522680.1:p.Leu238= | |
| XM_011524379.1:c.676C>T (CD300LF) | XP_011522681.1:p.Leu226= | |
| XM_017024212.2:c.669C>T (CD300LF) | XP_016879701.1:p.Cys223= | |
| XM_017024213.2:c.724C>T (CD300LF) | XP_016879702.1:p.Leu242= | |
| XM_017024214.2:c.715C>T (CD300LF) | XP_016879703.1:p.Leu239= | |
| XM_017024215.1:c.667C>T (CD300LF) | XP_016879704.1:p.Leu223= | |
| XM_017024216.2:c.646C>T (CD300LF) | XP_016879705.1:p.Leu216= | |
| XM_017024217.2:c.634C>T (CD300LF) | XP_016879706.1:p.Leu212= | |
| NM_139018.5:c.612C>T (CD300LF) MANE Select | NP_620587.2:p.Cys204= | |
| NM_001289082.2:c.508C>T (CD300LF) | NP_001276011.1:p.Leu170= | |
| NM_001289083.2:c.658C>T (CD300LF) | NP_001276012.1:p.Leu220= | |
| NM_001289084.2:c.657C>T (CD300LF) | NP_001276013.1:p.Cys219= | |
| NM_001289085.2:c.621C>T (CD300LF) | NP_001276014.1:p.Cys207= | |
| NM_001289086.2:c.643C>T (CD300LF) | NP_001276015.1:p.Leu215= | |
| NM_001289087.2:c.589C>T (CD300LF) | NP_001276016.1:p.Leu197= | |
| NM_175738.5:c.72+24172G>A (RAB37) | NP_783865.1:n.72+24172G>A | |
| NR_110298.2:n.707C>T (CD300LF) |