Linked Data
ClinVar Variation Id:
361150
dbSNP Id:
rs139212686
gnomAD v2:
8-103218225-C-T
gnomAD v3:
8-102205997-C-T
gnomAD v4:
8-102205997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102205997C>T , CM000670.2:g.102205997C>T | GRCh38 |
| NC_000008.10:g.103218225C>T , CM000670.1:g.103218225C>T | GRCh37 |
| NC_000008.9:g.103287401C>T | NCBI36 |
| NG_016617.1:g.38122G>A , LRG_788:g.38122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*2136G>A MANE Select | ENSP00000251810.3:n.*2136G>A | |
| ENST00000251810.7:c.*2136G>A | ENSP00000251810.3:n.*2136G>A | |
| ENST00000621845.1:c.*1886G>A | ENSP00000484318.1:n.*1886G>A | |
| NM_001172477.1:c.*2136G>A , LRG_788t1:c.*2136G>A | NP_001165948.1:n.*2136G>A | |
| NM_001172478.1:c.*2136G>A | NP_001165949.1:n.*2136G>A | |
| NM_015713.4:c.*2136G>A , LRG_788t2:c.*2136G>A | NP_056528.2:n.*2136G>A | |
| NM_001172478.2:c.*2136G>A | NP_001165949.1:n.*2136G>A | |
| NM_015713.5:c.*2136G>A MANE Select | NP_056528.2:n.*2136G>A |