Linked Data
ClinVar Variation Id:
407422
dbSNP Id:
rs371065167
ExAC:
4:55144601 G / A
gnomAD v2:
4-55144601-G-A
gnomAD v3:
4-54278434-G-A
gnomAD v4:
4-54278434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54278434G>A , CM000666.2:g.54278434G>A | GRCh38 |
| NC_000004.11:g.55144601G>A , CM000666.1:g.55144601G>A | GRCh37 |
| NC_000004.10:g.54839358G>A | NCBI36 |
| NG_009250.1:g.54338G>A , LRG_309:g.54338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.2075G>A MANE Select | ENSP00000257290.5:p.Ser692Asn | |
| ENST00000257290.9:c.2075G>A | ENSP00000257290.5:p.Ser692Asn | |
| ENST00000507166.5:c.1355G>A | ENSP00000423325.1:p.Ser452Asn | |
| ENST00000507536.1:n.501G>A | ||
| ENST00000509092.5:n.1893G>A | ||
| ENST00000509490.5:c.2075G>A | ENSP00000424218.1:p.Ser692Asn | |
| NM_006206.4:c.2075G>A , LRG_309t1:c.2075G>A | NP_006197.1:p.Ser692Asn | |
| XM_005265743.1:c.2075G>A | XP_005265800.1:p.Ser692Asn | |
| XM_006714039.2:c.2150G>A | XP_006714102.1:p.Ser717Asn | |
| XM_006714041.2:c.2150G>A | XP_006714104.1:p.Ser717Asn | |
| XM_011534385.1:c.2075G>A | XP_011532687.1:p.Ser692Asn | |
| XM_011534386.1:c.2075G>A | XP_011532688.1:p.Ser692Asn | |
| NM_001347827.1:c.2075G>A | NP_001334756.1:p.Ser692Asn | |
| NM_001347828.1:c.2150G>A | NP_001334757.1:p.Ser717Asn | |
| NM_001347829.1:c.2075G>A | NP_001334758.1:p.Ser692Asn | |
| NM_001347830.1:c.2114G>A | NP_001334759.1:p.Ser705Asn | |
| NM_006206.5:c.2075G>A | NP_006197.1:p.Ser692Asn | |
| XM_006714041.3:c.2150G>A | XP_006714104.1:p.Ser717Asn | |
| XM_017008281.1:c.2114G>A | XP_016863770.1:p.Ser705Asn | |
| NM_006206.6:c.2075G>A MANE Select | NP_006197.1:p.Ser692Asn | |
| NM_001347827.2:c.2075G>A | NP_001334756.1:p.Ser692Asn | |
| NM_001347828.2:c.2150G>A | NP_001334757.1:p.Ser717Asn | |
| NM_001347829.2:c.2075G>A | NP_001334758.1:p.Ser692Asn | |
| NM_001347830.2:c.2114G>A | NP_001334759.1:p.Ser705Asn |