Linked Data
ClinVar Variation Id:
40781
ClinVar RCV Id:
RCV000158004
RCV000192193
RCV000208771
RCV000212506
RCV000423708
RCV000439184
RCV000754677
RCV000844673
RCV001095724
RCV002415455
RCV003224114
dbSNP Id:
rs727504317
gnomAD v4:
15-66435145-G-A
COSMIC:
COSM1678546
PubMed:
PMID:17704260
PMID:18060073
PMID:18632602
PMID:19411838
PMID:20301365
PMID:22327936
PMID:25049390
PMID:25157968
PMID:28135719
ERepo:
CA180743/MONDO:0015280/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66435145G>A , CM000677.2:g.66435145G>A | GRCh38 |
| NC_000015.9:g.66727483G>A , CM000677.1:g.66727483G>A | GRCh37 |
| NC_000015.8:g.64514537G>A | NCBI36 |
| NG_008305.1:g.53273G>A , LRG_725:g.53273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.133G>A | ENSP00000508681.1:p.Asp45Asn | |
| ENST00000685172.1:c.199G>A | ENSP00000509604.1:p.Asp67Asn | |
| ENST00000685763.1:c.199G>A | ENSP00000509016.1:p.Asp67Asn | |
| ENST00000686347.1:c.199G>A | ENSP00000509027.1:p.Asp67Asn | |
| ENST00000687191.1:n.635G>A | ||
| ENST00000689951.1:c.199G>A | ENSP00000509308.1:p.Asp67Asn | |
| ENST00000691077.1:c.199G>A | ENSP00000509843.1:p.Asp67Asn | |
| ENST00000691576.1:c.199G>A | ENSP00000510066.1:p.Asp67Asn | |
| ENST00000691937.1:c.199G>A | ENSP00000508768.1:p.Asp67Asn | |
| ENST00000692487.1:c.199G>A | ENSP00000509534.1:p.Asp67Asn | |
| ENST00000692683.1:c.133G>A | ENSP00000508437.1:p.Asp45Asn | |
| ENST00000693150.1:c.133G>A | ENSP00000510309.1:p.Asp45Asn | |
| ENST00000307102.10:c.199G>A MANE Select | ENSP00000302486.5:p.Asp67Asn | |
| ENST00000307102.9:c.199G>A | ENSP00000302486.4:p.Asp67Asn | |
| ENST00000425818.2:n.710G>A | ||
| NM_002755.3:c.199G>A , LRG_725t1:c.199G>A | NP_002746.1:p.Asp67Asn | |
| XM_011521783.1:c.133G>A | XP_011520085.1:p.Asp45Asn | |
| XM_011521783.3:c.133G>A | XP_011520085.1:p.Asp45Asn | |
| XM_017022411.2:c.199G>A | XP_016877900.1:p.Asp67Asn | |
| XM_017022412.1:c.133G>A | XP_016877901.1:p.Asp45Asn | |
| NM_002755.4:c.199G>A MANE Select | NP_002746.1:p.Asp67Asn |