Linked Data
ClinVar Variation Id:
210132
dbSNP Id:
rs373211307
ExAC:
2:73717539 C / T
gnomAD v2:
2-73717539-C-T
gnomAD v3:
2-73490412-C-T
gnomAD v4:
2-73490412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490412C>T , CM000664.2:g.73490412C>T | GRCh38 |
| NC_000002.11:g.73717539C>T , CM000664.1:g.73717539C>T | GRCh37 |
| NC_000002.10:g.73571047C>T | NCBI36 |
| NG_011690.1:g.109660C>T , LRG_741:g.109660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.8072C>T | ENSP00000507671.1:p.Thr2691Ile | |
| ENST00000682801.1:c.8072C>T | ENSP00000507862.1:p.Thr2691Ile | |
| ENST00000682859.1:c.8072C>T | ENSP00000508222.1:p.Thr2691Ile | |
| ENST00000683791.1:c.1464C>T | ||
| ENST00000684460.1:c.5524C>T | ||
| ENST00000684548.1:c.8072C>T | ENSP00000507421.1:p.Thr2691Ile | |
| ENST00000684590.1:c.2519C>T | ENSP00000507376.1:p.Thr840Ile | |
| ENST00000684656.1:c.5524C>T | ||
| ENST00000613296.6:c.8453C>T MANE Select | ENSP00000482968.1:p.Thr2818Ile | |
| ENST00000651434.1:c.896-29363C>T | ||
| ENST00000423048.5:c.3030+254C>T | ENSP00000399833.1:n.3030+254C>T | |
| ENST00000484298.5:c.8327C>T | ENSP00000478155.1:p.Thr2776Ile | |
| ENST00000613296.4:c.8453C>T | ENSP00000482968.1:p.Thr2818Ile | |
| ENST00000614410.4:c.8453C>T | ENSP00000479094.1:p.Thr2818Ile | |
| ENST00000620466.4:n.2256C>T | ||
| NM_015120.4:c.8456C>T , LRG_741t1:c.8456C>T | NP_055935.4:p.Thr2819Ile | |
| NM_001378454.1:c.8453C>T MANE Select | NP_001365383.1:p.Thr2818Ile |