Linked Data
ClinVar Variation Id:
416446
ClinVar RCV Id:
RCV000474592
dbSNP Id:
rs111790169
ExAC:
1:15771095 C / T
gnomAD v2:
1-15771095-C-T
gnomAD v3:
1-15444600-C-T
gnomAD v4:
1-15444600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15444600C>T , CM000663.2:g.15444600C>T | GRCh38 |
| NC_000001.10:g.15771095C>T , CM000663.1:g.15771095C>T | GRCh37 |
| NC_000001.9:g.15643682C>T | NCBI36 |
| NG_009253.1:g.11158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.494-6C>T MANE Select | ENSP00000365116.4:n.494-6C>T | |
| ENST00000375943.6:c.*94-997C>T | ENSP00000365110.2:n.*94-997C>T | |
| ENST00000375949.4:c.494-6C>T | ENSP00000365116.4:n.494-6C>T | |
| ENST00000483406.1:n.404-997C>T | ||
| NM_007272.2:c.494-6C>T | NP_009203.2:n.494-6C>T | |
| XM_011540550.1:c.494-997C>T | XP_011538852.1:n.494-997C>T | |
| NM_007272.3:c.494-6C>T MANE Select | NP_009203.2:n.494-6C>T |