Linked Data
ClinVar Variation Id:
1099170
ClinVar RCV Id:
RCV001421369
dbSNP Id:
rs746372828
ExAC:
19:7592856 C / T
gnomAD v2:
19-7592856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527970C>T , CM000681.2:g.7527970C>T | GRCh38 |
| NC_000019.9:g.7592856C>T , CM000681.1:g.7592856C>T | GRCh37 |
| NC_000019.8:g.7498856C>T | NCBI36 |
| NG_015806.1:g.10361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.777+10C>T MANE Select | ENSP00000264079.5:n.777+10C>T | |
| ENST00000264079.10:c.777+10C>T | ENSP00000264079.5:n.777+10C>T | |
| ENST00000394321.9:n.1092+10C>T | ||
| NM_020533.2:c.777+10C>T | NP_065394.1:n.777+10C>T | |
| NM_020533.3:c.777+10C>T MANE Select | NP_065394.1:n.777+10C>T |