Linked Data
ClinVar Variation Id:
437824
ClinVar RCV Id:
RCV000504353
dbSNP Id:
rs773599829
ExAC:
6:99322143 C / T
gnomAD v2:
6-99322143-C-T
gnomAD v4:
6-98874267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98874267C>T , CM000668.2:g.98874267C>T | GRCh38 |
| NC_000006.11:g.99322143C>T , CM000668.1:g.99322143C>T | GRCh37 |
| NC_000006.10:g.99428864C>T | NCBI36 |
| NG_033903.1:g.78740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.*11G>A MANE Select | ENSP00000358247.1:n.*11G>A | |
| ENST00000229971.2:c.*11G>A | ENSP00000229971.1:n.*11G>A | |
| ENST00000369244.6:c.*11G>A | ENSP00000358247.1:n.*11G>A | |
| NM_001278716.1:c.*11G>A | NP_001265645.1:n.*11G>A | |
| NM_012160.4:c.*11G>A | NP_036292.2:n.*11G>A | |
| NR_103836.1:n.1922G>A | ||
| XM_005266930.1:c.*11G>A | XP_005266987.1:n.*11G>A | |
| XM_005266930.3:c.*11G>A | XP_005266987.1:n.*11G>A | |
| XM_017010726.1:c.*11G>A | XP_016866215.1:n.*11G>A | |
| XM_017010727.2:c.*11G>A | XP_016866216.1:n.*11G>A | |
| XM_017010728.1:c.*11G>A | XP_016866217.1:n.*11G>A | |
| NM_001278716.2:c.*11G>A MANE Select | NP_001265645.1:n.*11G>A | |
| NR_103836.2:n.1862G>A | ||
| NM_012160.5:c.*11G>A | NP_036292.2:n.*11G>A |