Linked Data
ClinVar Variation Id:
318733
ClinVar RCV Id:
RCV000383001
dbSNP Id:
rs886051875
gnomAD v2:
16-28853779-C-G
gnomAD v3:
16-28842458-C-G
gnomAD v4:
16-28842458-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28842458C>G , CM000678.2:g.28842458C>G | GRCh38 |
| NC_000016.9:g.28853779C>G , CM000678.1:g.28853779C>G | GRCh37 |
| NC_000016.8:g.28761280C>G | NCBI36 |
| NG_008964.1:g.8951G>C | |
| NG_029706.2:g.859C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.*517G>C MANE Select | ENSP00000322439.3:n.*517G>C | |
| ENST00000313511.7:c.*517G>C | ENSP00000322439.3:n.*517G>C | |
| NM_003321.4:c.*517G>C | NP_003312.3:n.*517G>C | |
| XR_950969.1:n.412C>G | ||
| NM_001365360.1:c.*517G>C | NP_001352289.1:n.*517G>C | |
| NM_003321.5:c.*517G>C MANE Select | NP_003312.3:n.*517G>C | |
| NM_001365360.2:c.*517G>C | NP_001352289.1:n.*517G>C |