Linked Data
ClinVar Variation Id:
8955
dbSNP Id:
rs28936376
ExAC:
1:53678947 G / A
gnomAD v2:
1-53678947-G-A
gnomAD v4:
1-53213275-G-A
PubMed:
PMID:7711730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53213275G>A , CM000663.2:g.53213275G>A | GRCh38 |
| NC_000001.10:g.53678947G>A , CM000663.1:g.53678947G>A | GRCh37 |
| NC_000001.9:g.53451535G>A | NCBI36 |
| NG_008035.1:g.21847G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371486.4:c.1657G>A MANE Select | ENSP00000360541.3:p.Asp553Asn | |
| ENST00000635862.1:c.1624G>A | ENSP00000490867.1:p.Asp542Asn | |
| ENST00000635888.1:c.*1643G>A | ENSP00000490042.1:n.*1643G>A | |
| ENST00000636239.1:c.*1304G>A | ENSP00000490066.1:n.*1304G>A | |
| ENST00000636867.1:c.1588G>A | ENSP00000489631.1:p.Asp530Asn | |
| ENST00000636891.1:c.1707G>A | ENSP00000490399.1:p.Leu569= | |
| ENST00000636935.1:c.352G>A | ENSP00000489757.1:p.Asp118Asn | |
| ENST00000637252.1:c.1693G>A | ENSP00000490492.1:p.Asp565Asn | |
| ENST00000638135.1:c.*1304G>A | ENSP00000489756.1:n.*1304G>A | |
| ENST00000371486.3:c.1657G>A | ENSP00000360541.3:p.Asp553Asn | |
| NM_000098.2:c.1657G>A | NP_000089.1:p.Asp553Asn | |
| XM_005270484.1:c.1588G>A | XP_005270541.1:p.Asp530Asn | |
| NM_001330589.1:c.1588G>A | NP_001317518.1:p.Asp530Asn | |
| NM_000098.3:c.1657G>A MANE Select | NP_000089.1:p.Asp553Asn | |
| NM_001330589.2:c.1588G>A | NP_001317518.1:p.Asp530Asn |