Linked Data
ClinVar Variation Id:
336106
ClinVar RCV Id:
RCV000377959
dbSNP Id:
rs541683193
gnomAD v2:
2-44113778-A-G
gnomAD v3:
2-43886639-A-G
gnomAD v4:
2-43886639-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43886639A>G , CM000664.2:g.43886639A>G | GRCh38 |
| NC_000002.11:g.44113778A>G , CM000664.1:g.44113778A>G | GRCh37 |
| NC_000002.10:g.43967282A>G | NCBI36 |
| NG_008247.1:g.114367T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682612.1:c.2913T>C | ||
| ENST00000684454.1:n.10010T>C | ||
| ENST00000260665.12:c.*1961T>C MANE Select | ENSP00000260665.7:n.*1961T>C | |
| ENST00000260665.11:c.*1961T>C | ENSP00000260665.7:n.*1961T>C | |
| NM_133259.3:c.*1961T>C | NP_573566.2:n.*1961T>C | |
| XR_002958896.1:n.6328T>C | ||
| NM_133259.4:c.*1961T>C MANE Select | NP_573566.2:n.*1961T>C |