Linked Data
ClinVar Variation Id:
323260
ClinVar RCV Id:
RCV000280273
dbSNP Id:
rs4796582
gnomAD v2:
17-40555114-A-C
gnomAD v3:
17-42403096-A-C
gnomAD v4:
17-42403096-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42403096A>C , CM000679.2:g.42403096A>C | GRCh38 |
| NC_000017.10:g.40555114A>C , CM000679.1:g.40555114A>C | GRCh37 |
| NC_000017.9:g.37808640A>C | NCBI36 |
| NG_015845.1:g.25225T>G | |
| NG_015845.2:g.25225T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357037.6:c.*1591T>G MANE Select | ENSP00000349541.4:n.*1591T>G | |
| ENST00000357037.5:c.*1591T>G | ENSP00000349541.4:n.*1591T>G | |
| NM_012232.5:c.*1591T>G | NP_036364.2:n.*1591T>G | |
| NM_012232.6:c.*1591T>G MANE Select | NP_036364.2:n.*1591T>G |