Linked Data
ClinVar Variation Id:
336118
ClinVar RCV Id:
RCV000394805
dbSNP Id:
rs142436911
gnomAD v2:
2-44114175-C-T
gnomAD v3:
2-43887036-C-T
gnomAD v4:
2-43887036-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887036C>T , CM000664.2:g.43887036C>T | GRCh38 |
| NC_000002.11:g.44114175C>T , CM000664.1:g.44114175C>T | GRCh37 |
| NC_000002.10:g.43967679C>T | NCBI36 |
| NG_008247.1:g.113970G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682612.1:c.2516G>A | ||
| ENST00000684454.1:n.9613G>A | ||
| ENST00000260665.12:c.*1564G>A MANE Select | ENSP00000260665.7:n.*1564G>A | |
| ENST00000260665.11:c.*1564G>A | ENSP00000260665.7:n.*1564G>A | |
| NM_133259.3:c.*1564G>A | NP_573566.2:n.*1564G>A | |
| XR_002958896.1:n.5931G>A | ||
| NM_133259.4:c.*1564G>A MANE Select | NP_573566.2:n.*1564G>A |