Linked Data
ClinVar Variation Id:
376116
dbSNP Id:
rs1057519770
COSMIC:
COSM35860
PubMed:
PMID:18397343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843825A>G , CM000681.2:g.17843825A>G | GRCh38 |
| NC_000019.9:g.17954634A>G , CM000681.1:g.17954634A>G | GRCh37 |
| NC_000019.8:g.17815634A>G | NCBI36 |
| NG_007273.1:g.9167T>C , LRG_77:g.9167T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.260T>C | ENSP00000513006.1:p.Ile87Thr | |
| ENST00000458235.7:c.260T>C MANE Select | ENSP00000391676.1:p.Ile87Thr | |
| ENST00000458235.5:c.260T>C | ENSP00000391676.1:p.Ile87Thr | |
| ENST00000526008.5:n.360T>C | ||
| ENST00000527031.5:n.350T>C | ||
| ENST00000527670.5:c.260T>C | ENSP00000432511.1:p.Ile87Thr | |
| ENST00000528293.1:n.324-334T>C | ||
| ENST00000534444.1:c.260T>C | ENSP00000436421.1:p.Ile87Thr | |
| NM_000215.3:c.260T>C , LRG_77t1:c.260T>C | NP_000206.2:p.Ile87Thr | |
| XM_005259896.2:c.389T>C | XP_005259953.1:p.Ile130Thr | |
| XM_006722745.2:c.260T>C | XP_006722808.1:p.Ile87Thr | |
| XM_011527990.1:c.389T>C | XP_011526292.1:p.Ile130Thr | |
| XM_011527991.1:c.389T>C | XP_011526293.1:p.Ile130Thr | |
| XR_430137.2:n.399T>C | ||
| XM_005259896.3:c.389T>C | XP_005259953.1:p.Ile130Thr | |
| XM_011527991.2:c.389T>C | XP_011526293.1:p.Ile130Thr | |
| NM_000215.4:c.260T>C MANE Select | NP_000206.2:p.Ile87Thr |