Linked Data
ClinVar Variation Id:
1524234
ClinVar RCV Id:
RCV002049096
dbSNP Id:
rs2148166668
gnomAD v4:
2-29220815-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220815A>G , CM000664.2:g.29220815A>G | GRCh38 |
| NC_000002.11:g.29443681A>G , CM000664.1:g.29443681A>G | GRCh37 |
| NC_000002.10:g.29297185A>G | NCBI36 |
| NG_009445.1:g.705752T>C , LRG_488:g.705752T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3536T>C MANE Select | ENSP00000373700.3:p.Ile1179Thr | |
| ENST00000431873.6:c.763T>C | ||
| ENST00000638605.1:n.413T>C | ||
| ENST00000642122.1:c.332T>C | ENSP00000493203.1:p.Ile111Thr | |
| ENST00000389048.7:c.3536T>C | ENSP00000373700.3:p.Ile1179Thr | |
| ENST00000431873.5:c.416T>C | ENSP00000414027.2:p.Ile139Thr | |
| ENST00000618119.4:c.2405T>C | ENSP00000482733.1:p.Ile802Thr | |
| NM_004304.4:c.3536T>C | NP_004295.2:p.Ile1179Thr | |
| NM_001353765.1:c.332T>C | NP_001340694.1:p.Ile111Thr | |
| XM_024452778.1:c.689T>C | XP_024308546.1:p.Ile230Thr | |
| XM_024452779.1:c.332T>C | XP_024308547.1:p.Ile111Thr | |
| NM_004304.5:c.3536T>C MANE Select | NP_004295.2:p.Ile1179Thr | |
| NM_001353765.2:c.332T>C | NP_001340694.1:p.Ile111Thr |