Linked Data
ClinVar Variation Id:
541747
ClinVar RCV Id:
RCV000652069
dbSNP Id:
rs1554952901
gnomAD v4:
10-96609774-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96609774A>G , CM000672.2:g.96609774A>G | GRCh38 |
| NC_000010.10:g.98369531A>G , CM000672.1:g.98369531A>G | GRCh37 |
| NC_000010.9:g.98359521A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339364.10:c.2108T>C MANE Select | ENSP00000339826.5:p.Ile703Thr | |
| ENST00000339364.9:c.2108T>C | ENSP00000339826.5:p.Ile703Thr | |
| ENST00000371109.3:c.905T>C | ENSP00000360150.3:p.Ile302Thr | |
| ENST00000371110.6:c.1574T>C | ENSP00000360151.2:p.Ile525Thr | |
| ENST00000467625.5:n.305T>C | ||
| ENST00000489982.1:n.227T>C | ||
| NM_152309.2:c.2108T>C | NP_689522.2:p.Ile703Thr | |
| XM_005269498.1:c.1574T>C | XP_005269555.1:p.Ile525Thr | |
| XM_005269499.1:c.1574T>C | XP_005269556.1:p.Ile525Thr | |
| XM_011539248.1:c.2108T>C | XP_011537550.1:p.Ile703Thr | |
| XM_011539249.1:c.2015-5725T>C | XP_011537551.1:n.2015-5725T>C | |
| NM_152309.3:c.2108T>C MANE Select | NP_689522.2:p.Ile703Thr |