Linked Data
ClinVar Variation Id:
322000
dbSNP Id:
rs1136287
ExAC:
17:1673276 C / T
gnomAD v2:
17-1673276-C-T
gnomAD v3:
17-1769982-C-T
gnomAD v4:
17-1769982-C-T
PubMed:
PMID:18226801
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1769982C>T , CM000679.2:g.1769982C>T | GRCh38 |
| NC_000017.10:g.1673276C>T , CM000679.1:g.1673276C>T | GRCh37 |
| NC_000017.9:g.1620026C>T | NCBI36 |
| NG_028180.1:g.13018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.215C>T MANE Select | ENSP00000254722.4:p.Thr72Met | |
| ENST00000254722.8:c.215C>T | ENSP00000254722.4:p.Thr72Met | |
| ENST00000570731.5:c.215C>T | ENSP00000459869.1:p.Thr72Met | |
| ENST00000571149.5:c.215C>T | ENSP00000460905.1:p.Thr72Met | |
| ENST00000571360.5:c.176C>T | ENSP00000461660.1:p.Thr59Met | |
| ENST00000571870.5:n.456C>T | ||
| ENST00000573770.5:c.215C>T | ENSP00000459107.1:p.Thr72Met | |
| ENST00000576406.5:c.-347C>T | ENSP00000461214.1:n.-347C>T | |
| ENST00000577053.1:c.215C>T | ENSP00000460842.1:p.Thr72Met | |
| NM_002615.5:c.215C>T | NP_002606.3:p.Thr72Met | |
| NM_001329903.1:c.215C>T | NP_001316832.1:p.Thr72Met | |
| NM_001329904.1:c.-347C>T | NP_001316833.1:n.-347C>T | |
| NM_002615.6:c.215C>T | NP_002606.3:p.Thr72Met | |
| NM_002615.7:c.215C>T MANE Select | NP_002606.3:p.Thr72Met | |
| NM_001329903.2:c.215C>T | NP_001316832.1:p.Thr72Met | |
| NM_001329904.2:c.-347C>T | NP_001316833.1:n.-347C>T |