Linked Data
ClinVar Variation Id:
545115
ClinVar RCV Id:
RCV000656371
dbSNP Id:
rs1057519698
COSMIC:
COSM4381100
CIViC:
CA346462880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29222347A>G , CM000664.2:g.29222347A>G | GRCh38 |
| NC_000002.11:g.29445213A>G , CM000664.1:g.29445213A>G | GRCh37 |
| NC_000002.10:g.29298717A>G | NCBI36 |
| NG_009445.1:g.704220T>C , LRG_488:g.704220T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3512T>C MANE Select | ENSP00000373700.3:p.Ile1171Thr | |
| ENST00000431873.6:c.739T>C | ||
| ENST00000638605.1:n.389T>C | ||
| ENST00000642122.1:c.308T>C | ENSP00000493203.1:p.Ile103Thr | |
| ENST00000389048.7:c.3512T>C | ENSP00000373700.3:p.Ile1171Thr | |
| ENST00000431873.5:c.392T>C | ENSP00000414027.2:p.Ile131Thr | |
| ENST00000453137.1:c.206T>C | ENSP00000387488.1:p.Ile69Thr | |
| ENST00000618119.4:c.2381T>C | ENSP00000482733.1:p.Ile794Thr | |
| NM_004304.4:c.3512T>C | NP_004295.2:p.Ile1171Thr | |
| NM_001353765.1:c.308T>C | NP_001340694.1:p.Ile103Thr | |
| XM_024452778.1:c.665T>C | XP_024308546.1:p.Ile222Thr | |
| XM_024452779.1:c.308T>C | XP_024308547.1:p.Ile103Thr | |
| NM_004304.5:c.3512T>C MANE Select | NP_004295.2:p.Ile1171Thr | |
| NM_001353765.2:c.308T>C | NP_001340694.1:p.Ile103Thr |