Linked Data
ClinVar Variation Id:
1463383
ClinVar RCV Id:
RCV001961018
dbSNP Id:
rs1342626907
gnomAD v2:
10-79737268-T-C
gnomAD v4:
10-77977510-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77977510T>C , CM000672.2:g.77977510T>C | GRCh38 |
| NC_000010.10:g.79737268T>C , CM000672.1:g.79737268T>C | GRCh37 |
| NC_000010.9:g.79407274T>C | NCBI36 |
| NG_029648.1:g.57031A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1941+2631A>G | ||
| ENST00000698725.1:n.1811A>G | ||
| ENST00000698726.1:n.3371A>G | ||
| ENST00000698727.1:n.3104A>G | ||
| ENST00000698728.1:n.3720A>G | ||
| ENST00000698729.1:n.5168A>G | ||
| ENST00000698730.1:n.5266A>G | ||
| ENST00000698731.1:c.4000A>G | ENSP00000513898.1:p.Thr1334Ala | |
| ENST00000698732.1:c.*2830A>G | ENSP00000513899.1:n.*2830A>G | |
| ENST00000698733.1:c.*3328A>G | ENSP00000513900.1:n.*3328A>G | |
| ENST00000698734.1:c.*2314A>G | ENSP00000513901.1:n.*2314A>G | |
| ENST00000698735.1:n.4492A>G | ||
| ENST00000698736.1:n.4905A>G | ||
| ENST00000372371.8:c.4141A>G MANE Select | ENSP00000361446.3:p.Thr1381Ala | |
| ENST00000372371.7:c.4141A>G | ENSP00000361446.3:p.Thr1381Ala | |
| ENST00000616246.4:c.472+2631A>G | ENSP00000483738.1:n.472+2631A>G | |
| NM_007055.3:c.4141A>G | NP_008986.2:p.Thr1381Ala | |
| NM_007055.4:c.4141A>G MANE Select | NP_008986.2:p.Thr1381Ala |