Linked Data
ClinVar Variation Id:
159708
dbSNP Id:
rs148238492
ExAC:
17:16216873 G / A
gnomAD v2:
17-16216873-G-A
gnomAD v3:
17-16313559-G-A
gnomAD v4:
17-16313559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16313559G>A , CM000679.2:g.16313559G>A | GRCh38 |
| NC_000017.10:g.16216873G>A , CM000679.1:g.16216873G>A | GRCh37 |
| NC_000017.9:g.16157598G>A | NCBI36 |
| NG_032651.1:g.101365G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.439G>A MANE Select | ENSP00000225609.5:p.Asp147Asn | |
| ENST00000225609.9:c.439G>A | ENSP00000225609.5:p.Asp147Asn | |
| ENST00000395844.8:c.439G>A | ENSP00000379185.3:p.Asp147Asn | |
| ENST00000477745.5:n.437G>A | ||
| ENST00000498772.6:n.456G>A | ||
| ENST00000580201.1:n.451G>A | ||
| ENST00000581006.5:c.426+13581G>A | ENSP00000462432.1:n.426+13581G>A | |
| ENST00000584797.5:c.439G>A | ENSP00000463540.1:p.Asp147Asn | |
| ENST00000585034.5:c.*33G>A | ENSP00000464424.1:n.*33G>A | |
| ENST00000596678.2:c.13G>A | ENSP00000470064.2:p.Asp5Asn | |
| NM_004278.3:c.439G>A | NP_004269.1:p.Asp147Asn | |
| XM_011524080.1:c.439G>A | XP_011522382.1:p.Asp147Asn | |
| XR_243571.2:n.457G>A | ||
| XR_429826.2:n.457G>A | ||
| XM_011524080.2:c.439G>A | XP_011522382.1:p.Asp147Asn | |
| XM_017025349.1:c.439G>A | XP_016880838.1:p.Asp147Asn | |
| XM_017025350.1:c.439G>A | XP_016880839.1:p.Asp147Asn | |
| XM_017025351.1:c.439G>A | XP_016880840.1:p.Asp147Asn | |
| XM_017025352.1:c.439G>A | XP_016880841.1:p.Asp147Asn | |
| XM_017025353.1:c.439G>A | XP_016880842.1:p.Asp147Asn | |
| XM_017025354.1:c.439G>A | XP_016880843.1:p.Asp147Asn | |
| XM_017025355.1:c.439G>A | XP_016880844.1:p.Asp147Asn | |
| XM_017025356.1:c.439G>A | XP_016880845.1:p.Asp147Asn | |
| NM_004278.4:c.439G>A MANE Select | NP_004269.1:p.Asp147Asn |