Linked Data
ClinVar Variation Id:
2038770
dbSNP Id:
rs13225917
ExAC:
7:138851618 G / A
gnomAD v2:
7-138851618-G-A
gnomAD v3:
7-139166872-G-A
gnomAD v4:
7-139166872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139166872G>A , CM000669.2:g.139166872G>A | GRCh38 |
| NC_000007.13:g.138851618G>A , CM000669.1:g.138851618G>A | GRCh37 |
| NC_000007.12:g.138502158G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343187.8:c.835G>A | ENSP00000339135.4:p.Asp279Asn | |
| ENST00000430935.5:c.928G>A | ENSP00000410655.1:p.Asp310Asn | |
| ENST00000464848.5:c.928G>A MANE Select | ENSP00000419279.1:p.Asp310Asn | |
| ENST00000476296.1:c.*681G>A | ENSP00000419639.1:n.*681G>A | |
| ENST00000478836.6:c.607G>A | ENSP00000419178.2:p.Asp203Asn | |
| ENST00000481482.5:n.1006G>A | ||
| ENST00000495038.5:c.535G>A | ENSP00000418788.1:p.Asp179Asn | |
| NM_001144920.2:c.928G>A | NP_001138392.1:p.Asp310Asn | |
| NM_001144923.2:c.835G>A | NP_001138395.1:p.Asp279Asn | |
| NM_001287512.1:c.535G>A | NP_001274441.1:p.Asp179Asn | |
| NM_001287513.1:c.613G>A | NP_001274442.1:p.Asp205Asn | |
| NM_024926.3:c.928G>A | NP_079202.2:p.Asp310Asn | |
| XM_005250608.3:c.508G>A | XP_005250665.1:p.Asp170Asn | |
| XM_006716135.2:c.610G>A | XP_006716198.1:p.Asp204Asn | |
| XM_011516584.1:c.928G>A | XP_011514886.1:p.Asp310Asn | |
| NM_001318333.1:c.508G>A | NP_001305262.1:p.Asp170Asn | |
| NM_001321740.1:c.928G>A | NP_001308669.1:p.Asp310Asn | |
| NM_001321741.1:c.610G>A | NP_001308670.1:p.Asp204Asn | |
| NM_024926.4:c.928G>A MANE Select | NP_079202.2:p.Asp310Asn | |
| NM_001144923.3:c.835G>A | NP_001138395.1:p.Asp279Asn | |
| NM_001287512.2:c.535G>A | NP_001274441.1:p.Asp179Asn | |
| NM_001287513.2:c.613G>A | NP_001274442.1:p.Asp205Asn | |
| NM_001318333.2:c.508G>A | NP_001305262.1:p.Asp170Asn | |
| NM_001321740.2:c.928G>A | NP_001308669.1:p.Asp310Asn | |
| NM_001321741.2:c.610G>A | NP_001308670.1:p.Asp204Asn | |
| NM_001144920.3:c.928G>A | NP_001138392.1:p.Asp310Asn |