Linked Data
ClinVar Variation Id:
725421
ClinVar RCV Id:
RCV000899477
dbSNP Id:
rs747386198
ExAC:
19:7591664 C / T
gnomAD v2:
19-7591664-C-T
gnomAD v3:
19-7526778-C-T
gnomAD v4:
19-7526778-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526778C>T , CM000681.2:g.7526778C>T | GRCh38 |
| NC_000019.9:g.7591664C>T , CM000681.1:g.7591664C>T | GRCh37 |
| NC_000019.8:g.7497664C>T | NCBI36 |
| NG_015806.1:g.9169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.423C>T MANE Select | ENSP00000264079.5:p.Asp141= | |
| ENST00000264079.10:c.423C>T | ENSP00000264079.5:p.Asp141= | |
| ENST00000394321.9:n.503C>T | ||
| ENST00000596008.1:n.385C>T | ||
| ENST00000598406.1:n.244C>T | ||
| ENST00000601003.1:c.423C>T | ENSP00000469074.1:p.Asp141= | |
| NM_020533.2:c.423C>T | NP_065394.1:p.Asp141= | |
| NM_020533.3:c.423C>T MANE Select | NP_065394.1:p.Asp141= |