Linked Data
ClinVar Variation Id:
200846
dbSNP Id:
rs149089817
ExAC:
11:2610027 G / A
gnomAD v2:
11-2610027-G-A
gnomAD v3:
11-2588797-G-A
gnomAD v4:
11-2588797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588797G>A , CM000673.2:g.2588797G>A | GRCh38 |
| NC_000011.9:g.2610027G>A , CM000673.1:g.2610027G>A | GRCh37 |
| NC_000011.8:g.2566603G>A | NCBI36 |
| NG_008935.1:g.148807G>A , LRG_287:g.148807G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.979G>A | ENSP00000434560.2:p.Asp327Asn | |
| ENST00000646564.2:c.796G>A | ENSP00000495806.2:p.Asp266Asn | |
| ENST00000155840.12:c.1336G>A MANE Select | ENSP00000155840.2:p.Asp446Asn | |
| ENST00000335475.6:c.955G>A | ENSP00000334497.5:p.Asp319Asn | |
| ENST00000646564.1:c.442G>A | ENSP00000495806.1:p.Asp148Asn | |
| ENST00000155840.9:c.1336G>A | ENSP00000155840.2:p.Asp446Asn | |
| ENST00000335475.5:c.955G>A | ENSP00000334497.5:p.Asp319Asn | |
| NM_000218.2:c.1336G>A , LRG_287t1:c.1336G>A | NP_000209.2:p.Asp446Asn | |
| NM_181798.1:c.955G>A , LRG_287t2:c.955G>A | NP_861463.1:p.Asp319Asn | |
| NM_000218.3:c.1336G>A MANE Select | NP_000209.2:p.Asp446Asn |