Linked Data
ClinVar Variation Id:
884052
dbSNP Id:
rs144083614
ExAC:
12:121174905 C / T
gnomAD v2:
12-121174905-C-T
gnomAD v3:
12-120737102-C-T
gnomAD v4:
12-120737102-C-T
COSMIC:
COSM2175380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737102C>T , CM000674.2:g.120737102C>T | GRCh38 |
| NC_000012.11:g.121174905C>T , CM000674.1:g.121174905C>T | GRCh37 |
| NC_000012.10:g.119659288C>T | NCBI36 |
| NG_007991.1:g.16335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.327C>T MANE Select | ENSP00000242592.4:p.Cys109= | |
| ENST00000242592.8:c.327C>T | ENSP00000242592.4:p.Cys109= | |
| ENST00000411593.2:c.327C>T | ENSP00000401045.2:p.Cys109= | |
| ENST00000539690.1:n.439C>T | ||
| NM_000017.3:c.327C>T | NP_000008.1:p.Cys109= | |
| NM_001302554.1:c.327C>T | NP_001289483.1:p.Cys109= | |
| NM_000017.4:c.327C>T MANE Select | NP_000008.1:p.Cys109= | |
| NM_001302554.2:c.327C>T | NP_001289483.1:p.Cys109= |