Linked Data
ClinVar Variation Id:
307563
dbSNP Id:
rs113292231
gnomAD v2:
12-124192347-C-T
gnomAD v3:
12-123707800-C-T
gnomAD v4:
12-123707800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123707800C>T , CM000674.2:g.123707800C>T | GRCh38 |
| NC_000012.11:g.124192347C>T , CM000674.1:g.124192347C>T | GRCh37 |
| NC_000012.10:g.122758300C>T | NCBI36 |
| NG_012743.1:g.483C>T | |
| NG_030442.1:g.41688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.*87C>T MANE Select | ENSP00000304941.5:n.*87C>T | |
| ENST00000679504.1:c.1982-404C>T | ENSP00000505006.1:n.1982-404C>T | |
| ENST00000680394.1:n.1282C>T | ||
| ENST00000680500.1:c.*553C>T | ENSP00000506438.1:n.*553C>T | |
| ENST00000680574.1:c.*87C>T | ENSP00000505356.1:n.*87C>T | |
| ENST00000303372.6:c.*87C>T | ENSP00000304941.5:n.*87C>T | |
| ENST00000426174.6:c.*87C>T | ENSP00000395171.2:n.*87C>T | |
| NM_001143850.2:c.*87C>T | NP_001137322.1:n.*87C>T | |
| NM_024809.4:c.*87C>T | NP_079085.2:n.*87C>T | |
| XM_005253623.2:c.*87C>T | XP_005253680.1:n.*87C>T | |
| XM_006719605.2:c.*29C>T | XP_006719668.1:n.*29C>T | |
| XM_011538748.1:c.*87C>T | XP_011537050.1:n.*87C>T | |
| XM_006719605.3:c.*29C>T | XP_006719668.1:n.*29C>T | |
| XM_017019974.1:c.*87C>T | XP_016875463.1:n.*87C>T | |
| XM_017019975.1:c.*87C>T | XP_016875464.1:n.*87C>T | |
| NM_024809.5:c.*87C>T MANE Select | NP_079085.2:n.*87C>T | |
| NM_001143850.3:c.*87C>T | NP_001137322.1:n.*87C>T |