Linked Data
ClinVar Variation Id:
1762483
ClinVar RCV Id:
RCV002412499
dbSNP Id:
rs777171271
ExAC:
2:73717296 C / T
gnomAD v2:
2-73717296-C-T
gnomAD v4:
2-73490169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490169C>T , CM000664.2:g.73490169C>T | GRCh38 |
| NC_000002.11:g.73717296C>T , CM000664.1:g.73717296C>T | GRCh37 |
| NC_000002.10:g.73570804C>T | NCBI36 |
| NG_011690.1:g.109417C>T , LRG_741:g.109417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7829C>T | ENSP00000507671.1:p.Thr2610Ile | |
| ENST00000682801.1:c.7829C>T | ENSP00000507862.1:p.Thr2610Ile | |
| ENST00000682859.1:c.7829C>T | ENSP00000508222.1:p.Thr2610Ile | |
| ENST00000683791.1:c.1221C>T | ||
| ENST00000684460.1:c.5281C>T | ||
| ENST00000684548.1:c.7829C>T | ENSP00000507421.1:p.Thr2610Ile | |
| ENST00000684590.1:c.2276C>T | ENSP00000507376.1:p.Thr759Ile | |
| ENST00000684656.1:c.5281C>T | ||
| ENST00000613296.6:c.8210C>T MANE Select | ENSP00000482968.1:p.Thr2737Ile | |
| ENST00000651434.1:c.896-29606C>T | ||
| ENST00000423048.5:c.3030+11C>T | ENSP00000399833.1:n.3030+11C>T | |
| ENST00000484298.5:c.8084C>T | ENSP00000478155.1:p.Thr2695Ile | |
| ENST00000613296.4:c.8210C>T | ENSP00000482968.1:p.Thr2737Ile | |
| ENST00000614410.4:c.8210C>T | ENSP00000479094.1:p.Thr2737Ile | |
| ENST00000620466.4:n.2013C>T | ||
| NM_015120.4:c.8213C>T , LRG_741t1:c.8213C>T | NP_055935.4:p.Thr2738Ile | |
| NM_001378454.1:c.8210C>T MANE Select | NP_001365383.1:p.Thr2737Ile |