Linked Data
ClinVar Variation Id:
368984
dbSNP Id:
rs112214860
gnomAD v2:
12-124192327-C-T
gnomAD v3:
12-123707780-C-T
gnomAD v4:
12-123707780-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123707780C>T , CM000674.2:g.123707780C>T | GRCh38 |
| NC_000012.11:g.124192327C>T , CM000674.1:g.124192327C>T | GRCh37 |
| NC_000012.10:g.122758280C>T | NCBI36 |
| NG_012743.1:g.463C>T | |
| NG_030442.1:g.41668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.*67C>T MANE Select | ENSP00000304941.5:n.*67C>T | |
| ENST00000679504.1:c.1982-424C>T | ENSP00000505006.1:n.1982-424C>T | |
| ENST00000680394.1:n.1262C>T | ||
| ENST00000680500.1:c.*533C>T | ENSP00000506438.1:n.*533C>T | |
| ENST00000680574.1:c.*67C>T | ENSP00000505356.1:n.*67C>T | |
| ENST00000303372.6:c.*67C>T | ENSP00000304941.5:n.*67C>T | |
| ENST00000426174.6:c.*67C>T | ENSP00000395171.2:n.*67C>T | |
| NM_001143850.2:c.*67C>T | NP_001137322.1:n.*67C>T | |
| NM_024809.4:c.*67C>T | NP_079085.2:n.*67C>T | |
| XM_005253623.2:c.*67C>T | XP_005253680.1:n.*67C>T | |
| XM_006719605.2:c.*9C>T | XP_006719668.1:n.*9C>T | |
| XM_011538748.1:c.*67C>T | XP_011537050.1:n.*67C>T | |
| XM_006719605.3:c.*9C>T | XP_006719668.1:n.*9C>T | |
| XM_017019974.1:c.*67C>T | XP_016875463.1:n.*67C>T | |
| XM_017019975.1:c.*67C>T | XP_016875464.1:n.*67C>T | |
| NM_024809.5:c.*67C>T MANE Select | NP_079085.2:n.*67C>T | |
| NM_001143850.3:c.*67C>T | NP_001137322.1:n.*67C>T |