Linked Data
ClinVar Variation Id:
17515
dbSNP Id:
rs121912823
ExAC:
10:50835727 T / C
gnomAD v2:
10-50835727-T-C
gnomAD v4:
10-49627681-T-C
PubMed:
PMID:12756141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49627681T>C , CM000672.2:g.49627681T>C | GRCh38 |
| NC_000010.10:g.50835727T>C , CM000672.1:g.50835727T>C | GRCh37 |
| NC_000010.9:g.50505733T>C | NCBI36 |
| NG_011797.1:g.23587T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.1007T>C MANE Select | ENSP00000337103.2:p.Ile336Thr | |
| ENST00000337653.6:c.1007T>C | ENSP00000337103.2:p.Ile336Thr | |
| ENST00000339797.5:c.653T>C | ENSP00000343486.1:p.Ile218Thr | |
| ENST00000351556.7:c.653T>C | ENSP00000345878.3:p.Ile218Thr | |
| ENST00000395559.6:c.653T>C | ENSP00000378926.2:p.Ile218Thr | |
| ENST00000395562.2:c.761T>C | ENSP00000378929.2:p.Ile254Thr | |
| ENST00000466590.6:c.*738T>C | ENSP00000473443.1:n.*738T>C | |
| NM_001142929.1:c.653T>C | NP_001136401.1:p.Ile218Thr | |
| NM_001142933.1:c.761T>C | NP_001136405.1:p.Ile254Thr | |
| NM_001142934.1:c.653T>C | NP_001136406.1:p.Ile218Thr | |
| NM_020549.4:c.1007T>C | NP_065574.3:p.Ile336Thr | |
| NM_020984.3:c.653T>C | NP_066264.3:p.Ile218Thr | |
| NM_020985.3:c.653T>C | NP_066265.3:p.Ile218Thr | |
| NM_020986.3:c.653T>C | NP_066266.3:p.Ile218Thr | |
| NM_001142929.2:c.653T>C | NP_001136401.2:p.Ile218Thr | |
| NM_001142933.2:c.761T>C | NP_001136405.2:p.Ile254Thr | |
| NM_001142934.2:c.653T>C | NP_001136406.2:p.Ile218Thr | |
| NM_020549.5:c.1007T>C MANE Select | NP_065574.4:p.Ile336Thr | |
| NM_020984.4:c.653T>C | NP_066264.4:p.Ile218Thr | |
| NM_020985.4:c.653T>C | NP_066265.4:p.Ile218Thr | |
| NM_020986.4:c.653T>C | NP_066266.4:p.Ile218Thr |