Linked Data
ClinVar Variation Id:
281964
dbSNP Id:
rs141579198
ExAC:
21:47552341 G / A
gnomAD v2:
21-47552341-G-A
gnomAD v3:
21-46132427-G-A
gnomAD v4:
21-46132427-G-A
COSMIC:
COSM1714110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132427G>A , CM000683.2:g.46132427G>A | GRCh38 |
| NC_000021.8:g.47552341G>A , CM000683.1:g.47552341G>A | GRCh37 |
| NC_000021.7:g.46376769G>A | NCBI36 |
| NG_008675.1:g.39309G>A , LRG_476:g.39309G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2935G>A MANE Select | ENSP00000300527.4:p.Asp979Asn | |
| ENST00000300527.8:c.2935G>A | ENSP00000300527.4:p.Asp979Asn | |
| NM_001849.3:c.2935G>A , LRG_476t1:c.2935G>A | NP_001840.3:p.Asp979Asn | |
| XM_011529451.1:c.2935G>A | XP_011527753.1:p.Asp979Asn | |
| XM_011529452.1:c.2935G>A | XP_011527754.1:p.Asp979Asn | |
| XR_937438.1:n.3012G>A | ||
| XR_937438.2:n.3019G>A | ||
| NM_001849.4:c.2935G>A MANE Select | NP_001840.3:p.Asp979Asn |