Linked Data
dbSNP Id:
rs759658381
ExAC:
12:7945646 C / T
gnomAD v2:
12-7945646-C-T
gnomAD v3:
12-7793050-C-T
gnomAD v4:
12-7793050-C-T
COSMIC:
COSM1992865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793050C>T , CM000674.2:g.7793050C>T | GRCh38 |
| NC_000012.11:g.7945646C>T , CM000674.1:g.7945646C>T | GRCh37 |
| NC_000012.10:g.7836913C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.252C>T MANE Select | ENSP00000229307.4:p.Val84= | |
| ENST00000229307.8:c.252C>T | ENSP00000229307.4:p.Val84= | |
| ENST00000526286.1:c.252C>T | ENSP00000435288.1:p.Val84= | |
| ENST00000526434.2:n.396C>T | ||
| ENST00000541267.5:c.180C>T | ENSP00000444434.1:p.Val60= | |
| NM_001297698.1:c.252C>T | NP_001284627.1:p.Val84= | |
| NM_024865.3:c.252C>T | NP_079141.2:p.Val84= | |
| XM_011520850.1:c.252C>T | XP_011519152.1:p.Val84= | |
| XM_011520851.1:c.180C>T | XP_011519153.1:p.Val60= | |
| XM_011520852.1:c.-121C>T | XP_011519154.1:n.-121C>T | |
| NM_024865.4:c.252C>T MANE Select | NP_079141.2:p.Val84= | |
| NM_001297698.2:c.252C>T | NP_001284627.1:p.Val84= |