Linked Data
ClinVar Variation Id:
1694508
ClinVar RCV Id:
RCV002262228
dbSNP Id:
rs774010404
ExAC:
1:36031212 C / T
gnomAD v2:
1-36031212-C-T
gnomAD v3:
1-35565611-C-T
gnomAD v4:
1-35565611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.35565611C>T , CM000663.2:g.35565611C>T | GRCh38 |
| NC_000001.10:g.36031212C>T , CM000663.1:g.36031212C>T | GRCh37 |
| NC_000001.9:g.35803799C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373243.7:c.2138C>T MANE Select | ENSP00000362340.2:p.Thr713Met | |
| ENST00000356090.8:c.2138C>T | ENSP00000348394.4:p.Thr713Met | |
| ENST00000373243.6:c.2138C>T | ENSP00000362340.2:p.Thr713Met | |
| ENST00000373253.7:c.2087C>T | ENSP00000362350.3:p.Thr696Met | |
| ENST00000423723.1:c.535-1212C>T | ||
| NM_001014839.1:c.2138C>T | NP_001014839.1:p.Thr713Met | |
| NM_001014841.1:c.2087C>T | NP_001014841.1:p.Thr696Met | |
| NM_014284.2:c.2138C>T | NP_055099.1:p.Thr713Met | |
| NM_014284.3:c.2138C>T MANE Select | NP_055099.1:p.Thr713Met | |
| NM_001014839.2:c.2138C>T | NP_001014839.1:p.Thr713Met | |
| NM_001014841.2:c.2087C>T | NP_001014841.1:p.Thr696Met |