Linked Data
ClinVar Variation Id:
297324
ClinVar RCV Id:
RCV000369631
dbSNP Id:
rs1057515527
gnomAD v2:
1-43199684-C-T
gnomAD v3:
1-42734013-C-T
gnomAD v4:
1-42734013-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42734013C>T , CM000663.2:g.42734013C>T | GRCh38 |
| NC_000001.10:g.43199684C>T , CM000663.1:g.43199684C>T | GRCh37 |
| NC_000001.9:g.42972271C>T | NCBI36 |
| NG_008993.1:g.11242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.*1073G>A MANE Select | ENSP00000296387.1:n.*1073G>A | |
| ENST00000296387.5:c.*1073G>A | ENSP00000296387.1:n.*1073G>A | |
| ENST00000539749.5:c.*1749G>A | ENSP00000443229.1:n.*1749G>A | |
| NM_001123395.1:c.*1855G>A | NP_001116867.1:n.*1855G>A | |
| NM_001185117.1:c.*1749G>A | NP_001172046.1:n.*1749G>A | |
| NM_148960.2:c.*1073G>A | NP_683763.2:n.*1073G>A | |
| NM_001123395.2:c.*1855G>A | NP_001116867.1:n.*1855G>A | |
| NM_148960.3:c.*1073G>A MANE Select | NP_683763.2:n.*1073G>A | |
| NM_001185117.2:c.*1749G>A | NP_001172046.1:n.*1749G>A |