Linked Data
ClinVar Variation Id:
328343
ClinVar RCV Id:
RCV001653594
dbSNP Id:
rs266811
gnomAD v2:
19-1397047-G-C
gnomAD v3:
19-1397048-G-C
gnomAD v4:
19-1397048-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397048G>C , CM000681.2:g.1397048G>C | GRCh38 |
| NC_000019.9:g.1397047G>C , CM000681.1:g.1397047G>C | GRCh37 |
| NC_000019.8:g.1348047G>C | NCBI36 |
| NG_008283.1:g.18165G>C | |
| NG_009785.1:g.9506C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.*311C>G MANE Select | ENSP00000252288.1:n.*311C>G | |
| NM_000156.5:c.*311C>G | NP_000147.1:n.*311C>G | |
| NM_000156.6:c.*311C>G MANE Select | NP_000147.1:n.*311C>G |