Linked Data
ClinVar Variation Id:
10665
ClinVar RCV Id:
RCV000011410
dbSNP Id:
rs387906482
gnomAD v3:
X-139561716-T-C
gnomAD v4:
X-139561716-T-C
PubMed:
PMID:10942410
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561716T>C , CM000685.2:g.139561716T>C | GRCh38 |
| NC_000023.10:g.138643875T>C , CM000685.1:g.138643875T>C | GRCh37 |
| NC_000023.9:g.138471541T>C | NCBI36 |
| NG_007994.1:g.35981T>C , LRG_556:g.35981T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.1031T>C MANE Select | ENSP00000218099.2:p.Ile344Thr | |
| ENST00000643157.1:n.1698T>C | ||
| ENST00000218099.6:c.1031T>C | ENSP00000218099.2:p.Ile344Thr | |
| ENST00000394090.2:c.917T>C | ENSP00000377650.2:p.Ile306Thr | |
| NM_000133.3:c.1031T>C , LRG_556t1:c.1031T>C | NP_000124.1:p.Ile344Thr | |
| NM_001313913.1:c.917T>C | NP_001300842.1:p.Ile306Thr | |
| XM_005262397.3:c.902T>C | XP_005262454.1:p.Ile301Thr | |
| XM_005262397.4:c.902T>C | XP_005262454.1:p.Ile301Thr | |
| NM_000133.4:c.1031T>C MANE Select | NP_000124.1:p.Ile344Thr | |
| NM_001313913.2:c.917T>C | NP_001300842.1:p.Ile306Thr |