Linked Data
ClinVar Variation Id:
1144555
ClinVar RCV Id:
RCV001483092
dbSNP Id:
rs765306710
ExAC:
19:7589872 C / T
gnomAD v2:
19-7589872-C-T
gnomAD v4:
19-7524986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524986C>T , CM000681.2:g.7524986C>T | GRCh38 |
| NC_000019.9:g.7589872C>T , CM000681.1:g.7589872C>T | GRCh37 |
| NC_000019.8:g.7495872C>T | NCBI36 |
| NG_015806.1:g.7377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.57C>T MANE Select | ENSP00000264079.5:p.Asn19= | |
| ENST00000264079.10:c.57C>T | ENSP00000264079.5:p.Asn19= | |
| ENST00000394321.9:n.137C>T | ||
| ENST00000596390.1:n.173C>T | ||
| ENST00000601003.1:c.57C>T | ENSP00000469074.1:p.Asn19= | |
| NM_020533.2:c.57C>T | NP_065394.1:p.Asn19= | |
| NM_020533.3:c.57C>T MANE Select | NP_065394.1:p.Asn19= |