Linked Data
ClinVar Variation Id:
438070
ClinVar RCV Id:
RCV000504659
dbSNP Id:
rs776788104
ExAC:
1:197390631 T / C
gnomAD v2:
1-197390631-T-C
gnomAD v3:
1-197421501-T-C
gnomAD v4:
1-197421501-T-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421501T>C , CM000663.2:g.197421501T>C | GRCh38 |
| NC_000001.10:g.197390631T>C , CM000663.1:g.197390631T>C | GRCh37 |
| NC_000001.9:g.195657254T>C | NCBI36 |
| NG_008483.1:g.158224T>C | |
| NG_008483.2:g.225040T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1673T>C MANE Select | ENSP00000356370.3:p.Ile558Thr | |
| ENST00000638467.1:c.1673T>C | ENSP00000491102.1:p.Ile558Thr | |
| ENST00000681519.1:c.554T>C | ENSP00000505267.1:p.Ile185Thr | |
| ENST00000367397.1:c.-185T>C | ENSP00000356367.1:n.-185T>C | |
| ENST00000367399.6:c.1337T>C | ENSP00000356369.2:p.Ile446Thr | |
| ENST00000367400.7:c.1673T>C | ENSP00000356370.3:p.Ile558Thr | |
| ENST00000484075.5:c.1673T>C | ENSP00000433932.1:p.Ile558Thr | |
| ENST00000535699.5:c.1466T>C | ENSP00000438786.1:p.Ile489Thr | |
| ENST00000538660.5:c.1673T>C | ENSP00000438091.1:p.Ile558Thr | |
| NM_001193640.1:c.1337T>C | NP_001180569.1:p.Ile446Thr | |
| NM_001257965.1:c.1466T>C | NP_001244894.1:p.Ile489Thr | |
| NM_001257966.1:c.1673T>C | NP_001244895.1:p.Ile558Thr | |
| NM_201253.2:c.1673T>C | NP_957705.1:p.Ile558Thr | |
| NR_047563.1:n.1882T>C | ||
| NR_047564.1:n.1882T>C | ||
| XM_011509365.1:c.1673T>C | XP_011507667.1:p.Ile558Thr | |
| XM_011509366.1:c.1673T>C | XP_011507668.1:p.Ile558Thr | |
| XM_011509367.1:c.1673T>C | XP_011507669.1:p.Ile558Thr | |
| XM_011509368.1:c.1091T>C | XP_011507670.1:p.Ile364Thr | |
| XM_011509369.1:c.116T>C | XP_011507671.1:p.Ile39Thr | |
| XM_011509365.2:c.1673T>C | XP_011507667.1:p.Ile558Thr | |
| XM_011509369.2:c.116T>C | XP_011507671.1:p.Ile39Thr | |
| XM_017000851.1:c.830T>C | XP_016856340.1:p.Ile277Thr | |
| XM_017000852.1:c.1673T>C | XP_016856341.1:p.Ile558Thr | |
| NM_201253.3:c.1673T>C MANE Select | NP_957705.1:p.Ile558Thr | |
| NM_001193640.2:c.1337T>C | NP_001180569.1:p.Ile446Thr | |
| NM_001257965.2:c.1466T>C | NP_001244894.1:p.Ile489Thr | |
| NR_047563.2:n.1834T>C | ||
| NR_047564.2:n.1834T>C | ||
| NM_001257966.2:c.1673T>C | NP_001244895.1:p.Ile558Thr |