Linked Data
ClinVar Variation Id:
307677
ClinVar RCV Id:
RCV000270820
dbSNP Id:
rs529020970
gnomAD v2:
12-12874288-C-T
gnomAD v3:
12-12721354-C-T
gnomAD v4:
12-12721354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12721354C>T , CM000674.2:g.12721354C>T | GRCh38 |
| NC_000012.11:g.12874288C>T , CM000674.1:g.12874288C>T | GRCh37 |
| NC_000012.10:g.12765555C>T | NCBI36 |
| NG_016341.1:g.8987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.*2408C>T | ENSP00000507272.1:n.*2408C>T | |
| ENST00000682620.1:n.2079C>T | ||
| ENST00000684771.1:n.1033C>T | ||
| ENST00000228872.9:c.*327C>T MANE Select | ENSP00000228872.4:n.*327C>T | |
| ENST00000228872.8:c.*327C>T | ENSP00000228872.4:n.*327C>T | |
| ENST00000396340.1:c.*147C>T | ENSP00000379629.1:n.*147C>T | |
| NM_004064.4:c.*327C>T | NP_004055.1:n.*327C>T | |
| NM_004064.5:c.*327C>T MANE Select | NP_004055.1:n.*327C>T |