Linked Data
ClinVar Variation Id:
1336479
dbSNP Id:
rs1672944551
gnomAD v3:
2-73490097-C-T
gnomAD v4:
2-73490097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490097C>T , CM000664.2:g.73490097C>T | GRCh38 |
| NC_000002.11:g.73717224C>T , CM000664.1:g.73717224C>T | GRCh37 |
| NC_000002.10:g.73570732C>T | NCBI36 |
| NG_011690.1:g.109345C>T , LRG_741:g.109345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7757C>T | ENSP00000507671.1:p.Thr2586Ile | |
| ENST00000682801.1:c.7757C>T | ENSP00000507862.1:p.Thr2586Ile | |
| ENST00000682859.1:c.7757C>T | ENSP00000508222.1:p.Thr2586Ile | |
| ENST00000683791.1:c.1149C>T | ||
| ENST00000684460.1:c.5209C>T | ||
| ENST00000684548.1:c.7757C>T | ENSP00000507421.1:p.Thr2586Ile | |
| ENST00000684590.1:c.2204C>T | ENSP00000507376.1:p.Thr735Ile | |
| ENST00000684656.1:c.5209C>T | ||
| ENST00000613296.6:c.8138C>T MANE Select | ENSP00000482968.1:p.Thr2713Ile | |
| ENST00000651434.1:c.896-29678C>T | ||
| ENST00000423048.5:c.2969C>T | ENSP00000399833.1:p.Thr990Ile | |
| ENST00000484298.5:c.8012C>T | ENSP00000478155.1:p.Thr2671Ile | |
| ENST00000613296.4:c.8138C>T | ENSP00000482968.1:p.Thr2713Ile | |
| ENST00000614410.4:c.8138C>T | ENSP00000479094.1:p.Thr2713Ile | |
| ENST00000620466.4:n.1941C>T | ||
| NM_015120.4:c.8141C>T , LRG_741t1:c.8141C>T | NP_055935.4:p.Thr2714Ile | |
| NM_001378454.1:c.8138C>T MANE Select | NP_001365383.1:p.Thr2713Ile |