Linked Data
ClinVar Variation Id:
3033785
ClinVar RCV Id:
RCV003911768
dbSNP Id:
rs1027247921
gnomAD v2:
12-115112644-C-T
gnomAD v3:
12-114674839-C-T
gnomAD v4:
12-114674839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674839C>T , CM000674.2:g.114674839C>T | GRCh38 |
| NC_000012.11:g.115112644C>T , CM000674.1:g.115112644C>T | GRCh37 |
| NC_000012.10:g.113597027C>T | NCBI36 |
| NG_008315.1:g.14326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1040-4G>A MANE Select | ENSP00000257567.2:n.1040-4G>A | |
| ENST00000257566.7:c.1100-4G>A | ENSP00000257566.3:n.1100-4G>A | |
| ENST00000349155.6:c.1040-4G>A | ENSP00000257567.2:n.1040-4G>A | |
| ENST00000613550.1:c.1040-4G>A | ENSP00000480048.1:n.1040-4G>A | |
| NM_005996.3:c.1040-4G>A | NP_005987.3:n.1040-4G>A | |
| NM_016569.3:c.1100-4G>A | NP_057653.3:n.1100-4G>A | |
| NM_005996.4:c.1040-4G>A MANE Select | NP_005987.3:n.1040-4G>A | |
| NM_016569.4:c.1100-4G>A | NP_057653.3:n.1100-4G>A |