Linked Data
ClinVar Variation Id:
330507
ClinVar RCV Id:
RCV000348278
dbSNP Id:
rs770355146
ExAC:
19:7598703 C / T
gnomAD v2:
19-7598703-C-T
gnomAD v3:
19-7533817-C-T
gnomAD v4:
19-7533817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533817C>T , CM000681.2:g.7533817C>T | GRCh38 |
| NC_000019.9:g.7598703C>T , CM000681.1:g.7598703C>T | GRCh37 |
| NC_000019.8:g.7504703C>T | NCBI36 |
| NG_013374.1:g.4666C>T | |
| NG_015806.1:g.16208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*22C>T MANE Select | ENSP00000264079.5:n.*22C>T | |
| ENST00000264079.10:c.*22C>T | ENSP00000264079.5:n.*22C>T | |
| ENST00000394321.9:n.2080C>T | ||
| ENST00000599334.1:c.493C>T | ||
| ENST00000601870.1:c.118C>T | ||
| ENST00000602227.1:n.319C>T | ||
| NM_020533.2:c.*22C>T | NP_065394.1:n.*22C>T | |
| NM_020533.3:c.*22C>T MANE Select | NP_065394.1:n.*22C>T |