Linked Data
ClinVar Variation Id:
3692
dbSNP Id:
rs121908030
ExAC:
19:11218160 G / A
gnomAD v2:
19-11218160-G-A
gnomAD v3:
19-11107484-G-A
gnomAD v4:
19-11107484-G-A
PubMed:
PMID:1301956
PMID:1933004
PMID:2088165
PMID:3263645
PMID:9484998
PMID:9664576
PMID:9714107
PMID:11810272
PMID:12436241
PMID:12732381
PMID:15241806
PMID:16020744
PMID:21310417
PMID:21418584
PMID:21600525
PMID:21600530
PMID:22398274
PMID:22698793
PMID:22881376
PMID:23651751
PMID:23956253
PMID:24585268
PMID:25769531
ERepo:
CA023792/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107484G>A , CM000681.2:g.11107484G>A | GRCh38 |
| NC_000019.9:g.11218160G>A , CM000681.1:g.11218160G>A | GRCh37 |
| NC_000019.8:g.11079160G>A | NCBI36 |
| NG_009060.1:g.23104G>A , LRG_274:g.23104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1168G>A | ENSP00000252444.6:p.Asp390Asn | |
| ENST00000559340.2:c.910G>A | ENSP00000453696.2:p.Asp304Asn | |
| ENST00000560467.2:c.910G>A | ENSP00000453513.2:p.Asp304Asn | |
| ENST00000558518.6:c.910G>A MANE Select | ENSP00000454071.1:p.Asp304Asn | |
| ENST00000252444.9:c.1164G>A | ||
| ENST00000455727.6:c.406G>A | ENSP00000397829.2:p.Asp136Asn | |
| ENST00000535915.5:c.787G>A | ENSP00000440520.1:p.Asp263Asn | |
| ENST00000545707.5:c.529G>A | ENSP00000437639.1:p.Asp177Asn | |
| ENST00000557933.5:c.910G>A | ENSP00000453557.1:p.Asp304Asn | |
| ENST00000558013.5:c.910G>A | ENSP00000453346.1:p.Asp304Asn | |
| ENST00000558518.5:c.910G>A | ENSP00000454071.1:p.Asp304Asn | |
| ENST00000558528.1:n.425G>A | ||
| ENST00000560467.1:c.510G>A | ||
| NM_000527.4:c.910G>A , LRG_274t1:c.910G>A | NP_000518.1:p.Asp304Asn | |
| NM_001195798.1:c.910G>A | NP_001182727.1:p.Asp304Asn | |
| NM_001195799.1:c.787G>A | NP_001182728.1:p.Asp263Asn | |
| NM_001195800.1:c.406G>A | NP_001182729.1:p.Asp136Asn | |
| NM_001195803.1:c.529G>A | NP_001182732.1:p.Asp177Asn | |
| XM_011528010.1:c.910G>A | XP_011526312.1:p.Asp304Asn | |
| XM_011528011.1:c.529G>A | XP_011526313.1:p.Asp177Asn | |
| XR_244074.2:n.1060G>A | ||
| XM_011528010.2:c.910G>A | XP_011526312.1:p.Asp304Asn | |
| XR_001753685.2:n.1027G>A | ||
| XR_001753686.2:n.1027G>A | ||
| NM_000527.5:c.910G>A MANE Select | NP_000518.1:p.Asp304Asn | |
| NM_001195798.2:c.910G>A | NP_001182727.1:p.Asp304Asn | |
| NM_001195799.2:c.787G>A | NP_001182728.1:p.Asp263Asn | |
| NM_001195800.2:c.406G>A | NP_001182729.1:p.Asp136Asn | |
| NM_001195803.2:c.529G>A | NP_001182732.1:p.Asp177Asn |