Linked Data
ClinVar Variation Id:
444168
dbSNP Id:
rs150404785
ExAC:
1:57341803 G / A
gnomAD v2:
1-57341803-G-A
gnomAD v3:
1-56876130-G-A
gnomAD v4:
1-56876130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56876130G>A , CM000663.2:g.56876130G>A | GRCh38 |
| NC_000001.10:g.57341803G>A , CM000663.1:g.57341803G>A | GRCh37 |
| NC_000001.9:g.57114391G>A | NCBI36 |
| NG_012049.1:g.26361G>A , LRG_139:g.26361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.519G>A | ||
| ENST00000695677.1:c.385G>A | ENSP00000512097.1:p.Asp129Asn | |
| ENST00000695678.1:c.385G>A | ENSP00000512098.1:p.Asp129Asn | |
| ENST00000695679.1:c.385G>A | ENSP00000512099.1:p.Asp129Asn | |
| ENST00000695680.1:n.491G>A | ||
| ENST00000695681.1:c.385G>A | ENSP00000512100.1:p.Asp129Asn | |
| ENST00000695682.1:n.479G>A | ||
| ENST00000695683.1:n.416G>A | ||
| ENST00000695684.1:n.283G>A | ||
| ENST00000695685.1:n.336G>A | ||
| ENST00000695723.1:c.385G>A | ENSP00000512121.1:p.Asp129Asn | |
| ENST00000361249.4:c.385G>A MANE Select | ENSP00000354458.3:p.Asp129Asn | |
| ENST00000361249.3:c.385G>A | ENSP00000354458.3:p.Asp129Asn | |
| NM_000562.2:c.385G>A , LRG_139t1:c.385G>A | NP_000553.1:p.Asp129Asn | |
| XM_011542079.1:c.385G>A | XP_011540381.1:p.Asp129Asn | |
| XM_011542079.2:c.385G>A | XP_011540381.1:p.Asp129Asn | |
| XM_017002234.1:c.385G>A | XP_016857723.1:p.Asp129Asn | |
| NM_000562.3:c.385G>A MANE Select | NP_000553.1:p.Asp129Asn |