Linked Data
ClinVar Variation Id:
313241
dbSNP Id:
rs3007037
gnomAD v2:
14-50087544-C-T
gnomAD v3:
14-49620826-C-T
gnomAD v4:
14-49620826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49620826C>T , CM000676.2:g.49620826C>T | GRCh38 |
| NC_000014.8:g.50087544C>T , CM000676.1:g.50087544C>T | GRCh37 |
| NC_000014.7:g.49157294C>T | NCBI36 |
| NG_008920.1:g.5056C>T | |
| NG_033054.1:g.4806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.-443C>T MANE Select | ENSP00000307423.2:n.-443C>T | |
| ENST00000305386.3:c.-443C>T | ENSP00000307423.2:n.-443C>T | |
| NM_002408.3:c.-443C>T | NP_002399.1:n.-443C>T | |
| NM_002408.4:c.-443C>T MANE Select | NP_002399.1:n.-443C>T |