Linked Data
ClinVar Variation Id:
332506
ClinVar RCV Id:
RCV000335883
dbSNP Id:
rs13403839
gnomAD v2:
2-176984454-A-T
gnomAD v3:
2-176119726-A-T
gnomAD v4:
2-176119726-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119726A>T , CM000664.2:g.176119726A>T | GRCh38 |
| NC_000002.11:g.176984454A>T , CM000664.1:g.176984454A>T | GRCh37 |
| NC_000002.10:g.176692700A>T | NCBI36 |
| NG_008133.2:g.12963A>T , LRG_246:g.12963A>T | |
| NG_009225.1:g.2042A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*495A>T MANE Select | ENSP00000249501.4:n.*495A>T | |
| ENST00000249501.4:c.*495A>T | ENSP00000249501.4:n.*495A>T | |
| NM_002148.3:c.*495A>T , LRG_246t1:c.*495A>T | NP_002139.2:n.*495A>T | |
| NM_002148.4:c.*495A>T MANE Select | NP_002139.2:n.*495A>T |