Linked Data
ClinVar Variation Id:
894154
ClinVar RCV Id:
RCV001134057
dbSNP Id:
rs932130349
gnomAD v2:
19-7592445-C-G
gnomAD v3:
19-7527559-C-G
gnomAD v4:
19-7527559-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527559C>G , CM000681.2:g.7527559C>G | GRCh38 |
| NC_000019.9:g.7592445C>G , CM000681.1:g.7592445C>G | GRCh37 |
| NC_000019.8:g.7498445C>G | NCBI36 |
| NG_015806.1:g.9950C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.611C>G MANE Select | ENSP00000264079.5:p.Pro204Arg | |
| ENST00000264079.10:c.611C>G | ENSP00000264079.5:p.Pro204Arg | |
| ENST00000394321.9:n.691C>G | ||
| ENST00000598406.1:n.432C>G | ||
| ENST00000601003.1:c.572-305C>G | ENSP00000469074.1:n.572-305C>G | |
| NM_020533.2:c.611C>G | NP_065394.1:p.Pro204Arg | |
| NM_020533.3:c.611C>G MANE Select | NP_065394.1:p.Pro204Arg |