Linked Data
ClinVar Variation Id:
307576
ClinVar RCV Id:
RCV000286699
dbSNP Id:
rs532360215
gnomAD v2:
12-124196996-C-T
gnomAD v3:
12-123712449-C-T
gnomAD v4:
12-123712449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123712449C>T , CM000674.2:g.123712449C>T | GRCh38 |
| NC_000012.11:g.124196996C>T , CM000674.1:g.124196996C>T | GRCh37 |
| NC_000012.10:g.122762949C>T | NCBI36 |
| NG_012743.1:g.5132C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.-117C>T MANE Select | ENSP00000332247.2:n.-117C>T | |
| ENST00000613625.5:c.-117C>T | ENSP00000482236.1:n.-117C>T | |
| ENST00000675344.1:c.-117C>T | ENSP00000501953.1:n.-117C>T | |
| ENST00000330342.7:c.-117C>T | ENSP00000332247.2:n.-117C>T | |
| ENST00000540368.5:n.94C>T | ||
| ENST00000613625.4:c.-117C>T | ENSP00000482236.1:n.-117C>T | |
| NM_012463.3:c.-117C>T | NP_036595.2:n.-117C>T | |
| XM_005253563.1:c.-117C>T | XP_005253620.1:n.-117C>T | |
| XR_429088.1:n.47C>T | ||
| XM_024448910.1:c.-117C>T | XP_024304678.1:n.-117C>T | |
| NM_012463.4:c.-117C>T MANE Select | NP_036595.2:n.-117C>T |