Linked Data
ClinVar Variation Id:
284970
dbSNP Id:
rs369365744
ExAC:
14:77746186 C / T
gnomAD v2:
14-77746186-C-T
gnomAD v3:
14-77279843-C-T
gnomAD v4:
14-77279843-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77279843C>T , CM000676.2:g.77279843C>T | GRCh38 |
| NC_000014.8:g.77746186C>T , CM000676.1:g.77746186C>T | GRCh37 |
| NC_000014.7:g.76815939C>T | NCBI36 |
| NG_008897.1:g.46040G>A , LRG_844:g.46040G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.510G>A | ||
| ENST00000556394.2:c.1412G>A | ENSP00000451967.2:p.Arg471Gln | |
| ENST00000682128.1:c.86G>A | ENSP00000506976.1:p.Arg29Gln | |
| ENST00000682247.1:c.1871G>A | ENSP00000507213.1:p.Arg624Gln | |
| ENST00000682382.1:c.2519G>A | ||
| ENST00000682395.1:n.2049G>A | ||
| ENST00000682459.1:n.1574G>A | ||
| ENST00000682467.1:c.1871G>A | ENSP00000508062.1:p.Arg624Gln | |
| ENST00000682615.1:n.86G>A | ||
| ENST00000682795.1:c.1871G>A | ENSP00000507574.1:p.Arg624Gln | |
| ENST00000682895.1:n.1587G>A | ||
| ENST00000682955.1:n.1159G>A | ||
| ENST00000682973.1:c.158G>A | ENSP00000508268.1:p.Arg53Gln | |
| ENST00000683095.1:c.277G>A | ENSP00000508040.1:n.277G>A | |
| ENST00000683188.1:c.1846G>A | ||
| ENST00000683380.1:n.1535G>A | ||
| ENST00000683828.1:c.1580G>A | ||
| ENST00000683907.1:c.86G>A | ENSP00000507754.1:p.Arg29Gln | |
| ENST00000684172.1:c.247G>A | ENSP00000508391.1:n.247G>A | |
| ENST00000684259.1:n.2685G>A | ||
| ENST00000684538.1:n.297G>A | ||
| ENST00000684549.1:n.1422G>A | ||
| ENST00000261534.9:c.1871G>A MANE Select | ENSP00000261534.4:p.Arg624Gln | |
| ENST00000261534.8:c.1871G>A | ENSP00000261534.4:p.Arg624Gln | |
| ENST00000452340.7:n.1894G>A | ||
| ENST00000554767.5:n.2657G>A | ||
| ENST00000555134.1:n.510G>A | ||
| ENST00000555710.1:c.140G>A | ENSP00000451730.1:p.Arg47Gln | |
| ENST00000556171.1:c.274G>A | ||
| ENST00000556394.1:c.67G>A | ||
| ENST00000602717.5:c.86G>A | ENSP00000487704.1:p.Arg29Gln | |
| NM_013382.5:c.1871G>A , LRG_844t1:c.1871G>A | NP_037514.2:p.Arg624Gln | |
| XM_011536675.1:c.1871G>A | XP_011534977.1:p.Arg624Gln | |
| XM_011536676.1:c.1538G>A | XP_011534978.1:p.Arg513Gln | |
| XM_011536677.1:c.1412G>A | XP_011534979.1:p.Arg471Gln | |
| XM_011536678.1:c.1871G>A | XP_011534980.1:p.Arg624Gln | |
| XM_011536679.1:c.965G>A | XP_011534981.1:p.Arg322Gln | |
| XR_943416.1:n.2074G>A | ||
| XM_011536675.2:c.1871G>A | XP_011534977.1:p.Arg624Gln | |
| XM_011536676.2:c.1538G>A | XP_011534978.1:p.Arg513Gln | |
| XM_011536677.3:c.1412G>A | XP_011534979.1:p.Arg471Gln | |
| XR_001750279.1:n.2071G>A | ||
| XR_001750282.1:n.2524G>A | ||
| XR_943416.3:n.2072G>A | ||
| NM_013382.6:c.1871G>A | NP_037514.2:p.Arg624Gln | |
| NM_013382.7:c.1871G>A MANE Select | NP_037514.2:p.Arg624Gln |