Linked Data
ClinVar Variation Id:
2918992
ClinVar RCV Id:
RCV003615507
dbSNP Id:
rs374179113
ExAC:
19:7593028 C / T
gnomAD v2:
19-7593028-C-T
gnomAD v3:
19-7528142-C-T
gnomAD v4:
19-7528142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528142C>T , CM000681.2:g.7528142C>T | GRCh38 |
| NC_000019.9:g.7593028C>T , CM000681.1:g.7593028C>T | GRCh37 |
| NC_000019.8:g.7499028C>T | NCBI36 |
| NG_015806.1:g.10533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.778-16C>T MANE Select | ENSP00000264079.5:n.778-16C>T | |
| ENST00000264079.10:c.778-16C>T | ENSP00000264079.5:n.778-16C>T | |
| ENST00000394321.9:n.1093-16C>T | ||
| NM_020533.2:c.778-16C>T | NP_065394.1:n.778-16C>T | |
| NM_020533.3:c.778-16C>T MANE Select | NP_065394.1:n.778-16C>T |