Linked Data
ClinVar Variation Id:
2340264
ClinVar RCV Id:
RCV002950326
dbSNP Id:
rs200423869
ExAC:
6:150710658 G / A
gnomAD v2:
6-150710658-G-A
gnomAD v3:
6-150389522-G-A
gnomAD v4:
6-150389522-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150389522G>A , CM000668.2:g.150389522G>A | GRCh38 |
| NC_000006.11:g.150710658G>A , CM000668.1:g.150710658G>A | GRCh37 |
| NC_000006.10:g.150752351G>A | NCBI36 |
| NG_016007.1:g.25631G>A | |
| NG_016007.2:g.25631G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344419.8:c.349G>A MANE Select | ENSP00000343763.4:p.Asp117Asn | |
| ENST00000229447.9:c.349G>A | ENSP00000229447.5:p.Asp117Asn | |
| ENST00000344419.7:c.349G>A | ENSP00000343763.3:p.Asp117Asn | |
| ENST00000367335.7:c.349G>A | ENSP00000356304.3:p.Asp117Asn | |
| ENST00000392255.7:c.349G>A | ENSP00000376084.3:p.Asp117Asn | |
| ENST00000392256.6:c.349G>A | ENSP00000376085.2:p.Asp117Asn | |
| ENST00000422583.2:c.179+47G>A | ENSP00000397342.2:n.179+47G>A | |
| ENST00000425615.3:c.184G>A | ENSP00000390081.3:p.Asp62Asn | |
| ENST00000500320.7:c.349G>A | ENSP00000441276.1:p.Asp117Asn | |
| ENST00000546121.1:n.292G>A | ||
| NM_001164694.1:c.349G>A | NP_001158166.1:p.Asp117Asn | |
| NM_001164695.1:c.349G>A | NP_001158167.1:p.Asp117Asn | |
| NM_203395.2:c.349G>A | NP_981932.1:p.Asp117Asn | |
| XM_006715478.2:c.349G>A | XP_006715541.1:p.Asp117Asn | |
| XM_006715479.2:c.184G>A | XP_006715542.1:p.Asp62Asn | |
| XR_245516.3:n.512G>A | ||
| NM_001318495.1:c.124+47G>A | NP_001305424.1:n.124+47G>A | |
| NR_134655.1:n.489G>A | ||
| XM_006715478.3:c.349G>A | XP_006715541.1:p.Asp117Asn | |
| XM_006715479.3:c.184G>A | XP_006715542.1:p.Asp62Asn | |
| NM_001164694.2:c.349G>A | NP_001158166.1:p.Asp117Asn | |
| NM_001164695.2:c.349G>A | NP_001158167.1:p.Asp117Asn | |
| NM_001318495.2:c.124+47G>A | NP_001305424.1:n.124+47G>A | |
| NM_203395.3:c.349G>A MANE Select | NP_981932.1:p.Asp117Asn | |
| NR_134655.2:n.369G>A |