Linked Data
ClinVar Variation Id:
894184
ClinVar RCV Id:
RCV001134182
dbSNP Id:
rs752059298
gnomAD v2:
19-7595162-C-T
gnomAD v4:
19-7530276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530276C>T , CM000681.2:g.7530276C>T | GRCh38 |
| NC_000019.9:g.7595162C>T , CM000681.1:g.7595162C>T | GRCh37 |
| NC_000019.8:g.7501162C>T | NCBI36 |
| NG_013374.1:g.1125C>T | |
| NG_015806.1:g.12667C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1360-10C>T MANE Select | ENSP00000264079.5:n.1360-10C>T | |
| ENST00000264079.10:c.1360-10C>T | ENSP00000264079.5:n.1360-10C>T | |
| ENST00000394321.9:n.1675-10C>T | ||
| ENST00000594692.1:n.356-10C>T | ||
| ENST00000595860.5:n.543-10C>T | ||
| ENST00000599334.1:c.237-159C>T | ||
| NM_020533.2:c.1360-10C>T | NP_065394.1:n.1360-10C>T | |
| NM_020533.3:c.1360-10C>T MANE Select | NP_065394.1:n.1360-10C>T |