Linked Data
ClinVar Variation Id:
91991
ClinVar RCV Id:
RCV000122548
dbSNP Id:
rs386352299
ExAC:
10:103348104 C / T
gnomAD v2:
10-103348104-C-T
gnomAD v3:
10-101588347-C-T
gnomAD v4:
10-101588347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101588347C>T , CM000672.2:g.101588347C>T | GRCh38 |
| NC_000010.10:g.103348104C>T , CM000672.1:g.103348104C>T | GRCh37 |
| NC_000010.9:g.103338094C>T | NCBI36 |
| NG_017063.1:g.4924G>A | |
| NG_051289.1:g.5060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370151.9:c.11C>T MANE Select | ENSP00000359170.4:p.Thr4Met | |
| ENST00000370147.5:c.11C>T | ENSP00000359166.1:p.Thr4Met | |
| ENST00000370151.8:c.11C>T | ENSP00000359170.4:p.Thr4Met | |
| ENST00000470165.1:n.621+890C>T | ||
| ENST00000626968.2:c.11C>T | ENSP00000486078.1:p.Thr4Met | |
| NM_015448.1:c.11C>T | NP_056263.1:p.Thr4Met | |
| NM_001329742.1:c.11C>T | NP_001316671.1:p.Thr4Met | |
| NM_001329743.1:c.11C>T | NP_001316672.1:p.Thr4Met | |
| NM_001329744.1:c.11C>T | NP_001316673.1:p.Thr4Met | |
| NM_001329745.1:c.-330C>T | NP_001316674.1:n.-330C>T | |
| NM_001329746.1:c.11C>T | NP_001316675.1:p.Thr4Met | |
| NM_015448.2:c.11C>T | NP_056263.1:p.Thr4Met | |
| NM_015448.3:c.11C>T MANE Select | NP_056263.1:p.Thr4Met | |
| NM_001329742.2:c.11C>T | NP_001316671.1:p.Thr4Met | |
| NM_001329743.2:c.11C>T | NP_001316672.1:p.Thr4Met | |
| NM_001329744.2:c.11C>T | NP_001316673.1:p.Thr4Met | |
| NM_001329745.2:c.-330C>T | NP_001316674.1:n.-330C>T | |
| NM_001329746.2:c.11C>T | NP_001316675.1:p.Thr4Met |