Linked Data
ClinVar Variation Id:
18219
dbSNP Id:
rs75920790
ExAC:
4:74283928 G / A
gnomAD v2:
4-74283928-G-A
gnomAD v3:
4-73418211-G-A
gnomAD v4:
4-73418211-G-A
PubMed:
PMID:1859851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418211G>A , CM000666.2:g.73418211G>A | GRCh38 |
| NC_000004.11:g.74283928G>A , CM000666.1:g.74283928G>A | GRCh37 |
| NC_000004.10:g.74502792G>A | NCBI36 |
| NG_009291.1:g.18957G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1552G>A MANE Select | ENSP00000295897.4:p.Asp518Asn | |
| ENST00000295897.8:c.1552G>A | ENSP00000295897.4:p.Asp518Asn | |
| ENST00000401494.7:c.1207G>A | ENSP00000384695.3:p.Asp403Asn | |
| ENST00000415165.6:c.976G>A | ENSP00000401820.2:p.Asp326Asn | |
| ENST00000476441.6:c.*831G>A | ENSP00000423727.1:n.*831G>A | |
| ENST00000486939.1:n.206G>A | ||
| ENST00000503124.5:c.1102G>A | ENSP00000421027.1:p.Asp368Asn | |
| ENST00000505649.5:n.1099G>A | ||
| ENST00000509063.5:c.1552G>A | ENSP00000422784.1:p.Asp518Asn | |
| ENST00000511370.1:c.1085G>A | ||
| ENST00000621085.4:c.913G>A | ENSP00000483421.1:p.Asp305Asn | |
| ENST00000621628.4:c.913G>A | ENSP00000480485.1:p.Asp305Asn | |
| NM_000477.5:c.1552G>A | NP_000468.1:p.Asp518Asn | |
| NM_000477.6:c.1552G>A | NP_000468.1:p.Asp518Asn | |
| NM_000477.7:c.1552G>A MANE Select | NP_000468.1:p.Asp518Asn |