Linked Data
ClinVar Variation Id:
1430229
ClinVar RCV Id:
RCV001931398
dbSNP Id:
rs1601476010
gnomAD v4:
20-63350656-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350656A>G , CM000682.2:g.63350656A>G | GRCh38 |
| NC_000020.10:g.61982008A>G , CM000682.1:g.61982008A>G | GRCh37 |
| NC_000020.9:g.61452452A>G | NCBI36 |
| NG_011931.1:g.15688T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.755T>C MANE Select | ENSP00000359285.4:p.Ile252Thr | |
| ENST00000370263.8:c.755T>C | ENSP00000359285.4:p.Ile252Thr | |
| ENST00000463705.5:n.1403T>C | ||
| ENST00000467563.3:n.825T>C | ||
| ENST00000498043.6:c.779T>C | ||
| ENST00000615287.4:c.542T>C | ENSP00000483388.1:p.Ile181Thr | |
| ENST00000627000.1:c.*444T>C | ENSP00000486914.1:n.*444T>C | |
| ENST00000630240.1:n.476T>C | ||
| NM_000744.6:c.755T>C | NP_000735.1:p.Ile252Thr | |
| NM_001256573.1:c.227T>C | NP_001243502.1:p.Ile76Thr | |
| NR_046317.1:n.1011T>C | ||
| XM_011528524.1:c.542T>C | XP_011526826.1:p.Ile181Thr | |
| XM_017027625.2:c.227T>C | XP_016883114.1:p.Ile76Thr | |
| XM_024451822.1:c.227T>C | XP_024307590.1:p.Ile76Thr | |
| NM_001256573.2:c.227T>C | NP_001243502.1:p.Ile76Thr | |
| NR_046317.2:n.964T>C | ||
| NM_000744.7:c.755T>C MANE Select | NP_000735.1:p.Ile252Thr |