Linked Data
dbSNP Id:
rs749688310
ExAC:
19:7594069 C / A
gnomAD v2:
19-7594069-C-A
gnomAD v3:
19-7529183-C-A
gnomAD v4:
19-7529183-C-A
MyVariant Identifiers:
chr19:g.7594069C>A (hg19)
chr19:g.7594069_7594072delinsACTT (hg19)
chr19:g.7529183C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529183C>A , CM000681.2:g.7529183C>A | GRCh38 |
| NC_000019.9:g.7594069C>A , CM000681.1:g.7594069C>A | GRCh37 |
| NC_000019.8:g.7500069C>A | NCBI36 |
| NG_013374.1:g.32C>A | |
| NG_015806.1:g.11574C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1217C>A MANE Select | ENSP00000264079.5:p.Thr406Asn | |
| ENST00000264079.10:c.1217C>A | ENSP00000264079.5:p.Thr406Asn | |
| ENST00000394321.9:n.1532C>A | ||
| ENST00000594692.1:n.213C>A | ||
| ENST00000595860.5:n.400C>A | ||
| ENST00000599334.1:c.94C>A | ||
| NM_020533.2:c.1217C>A | NP_065394.1:p.Thr406Asn | |
| NM_020533.3:c.1217C>A MANE Select | NP_065394.1:p.Thr406Asn |