Linked Data
ClinVar Variation Id:
10627
ClinVar RCV Id:
RCV000011371
dbSNP Id:
rs137852268
gnomAD v4:
X-139562013-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562013T>C , CM000685.2:g.139562013T>C | GRCh38 |
| NC_000023.10:g.138644172T>C , CM000685.1:g.138644172T>C | GRCh37 |
| NC_000023.9:g.138471838T>C | NCBI36 |
| NG_007994.1:g.36278T>C , LRG_556:g.36278T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.1328T>C MANE Select | ENSP00000218099.2:p.Ile443Thr | |
| ENST00000643157.1:n.1723+272T>C | ||
| ENST00000218099.6:c.1328T>C | ENSP00000218099.2:p.Ile443Thr | |
| ENST00000394090.2:c.1214T>C | ENSP00000377650.2:p.Ile405Thr | |
| NM_000133.3:c.1328T>C , LRG_556t1:c.1328T>C | NP_000124.1:p.Ile443Thr | |
| NM_001313913.1:c.1214T>C | NP_001300842.1:p.Ile405Thr | |
| XM_005262397.3:c.1199T>C | XP_005262454.1:p.Ile400Thr | |
| XM_005262397.4:c.1199T>C | XP_005262454.1:p.Ile400Thr | |
| NM_000133.4:c.1328T>C MANE Select | NP_000124.1:p.Ile443Thr | |
| NM_001313913.2:c.1214T>C | NP_001300842.1:p.Ile405Thr |