Linked Data
ClinVar Variation Id:
329732
dbSNP Id:
rs550939154
gnomAD v2:
19-48344220-C-G
gnomAD v3:
19-47840963-C-G
gnomAD v4:
19-47840963-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47840963C>G , CM000681.2:g.47840963C>G | GRCh38 |
| NC_000019.9:g.48344220C>G , CM000681.1:g.48344220C>G | GRCh37 |
| NC_000019.8:g.53036032C>G | NCBI36 |
| NG_008605.1:g.24122C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221996.12:c.*996C>G MANE Select | ENSP00000221996.5:n.*996C>G | |
| ENST00000221996.11:c.*996C>G | ENSP00000221996.5:n.*996C>G | |
| ENST00000539067.5:c.*466+530C>G | ENSP00000445565.1:n.*466+530C>G | |
| ENST00000602001.1:n.45+209C>G | ||
| ENST00000613299.1:c.*1618C>G | ENSP00000478106.1:n.*1618C>G | |
| NM_000554.4:c.*996C>G | NP_000545.1:n.*996C>G | |
| NM_000554.5:c.*996C>G | NP_000545.1:n.*996C>G | |
| NM_000554.6:c.*996C>G MANE Select | NP_000545.1:n.*996C>G |