Linked Data
ClinVar Variation Id:
134509
dbSNP Id:
rs587778396
ExAC:
12:121431353 T / C
gnomAD v2:
12-121431353-T-C
gnomAD v3:
12-120993550-T-C
gnomAD v4:
12-120993550-T-C
ERepo:
CA160013/MONDO:0015967/017
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120993550T>C , CM000674.2:g.120993550T>C | GRCh38 |
| NC_000012.11:g.121431353T>C , CM000674.1:g.121431353T>C | GRCh37 |
| NC_000012.10:g.119915736T>C | NCBI36 |
| NG_011731.2:g.19805T>C , LRG_522:g.19805T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.557T>C | ENSP00000453965.2:p.Ile186Thr | |
| ENST00000257555.11:c.557T>C MANE Select | ENSP00000257555.5:p.Ile186Thr | |
| ENST00000257555.10:c.557T>C | ENSP00000257555.4:p.Ile186Thr | |
| ENST00000400024.6:c.557T>C | ENSP00000476181.1:p.Ile186Thr | |
| ENST00000402929.5:n.692T>C | ||
| ENST00000535955.5:n.43-3941T>C | ||
| ENST00000538626.2:n.191-3941T>C | ||
| ENST00000538646.5:c.527-614T>C | ENSP00000443964.1:n.527-614T>C | |
| ENST00000540108.1:c.357T>C | ENSP00000445445.1:p.Asp119= | |
| ENST00000541395.5:c.557T>C | ENSP00000443112.1:p.Ile186Thr | |
| ENST00000541924.5:c.557T>C | ENSP00000440361.1:p.Ile186Thr | |
| ENST00000543427.5:c.557T>C | ENSP00000439721.2:p.Ile186Thr | |
| ENST00000544413.2:c.557T>C | ENSP00000438804.1:p.Ile186Thr | |
| ENST00000544574.5:c.73-3067T>C | ENSP00000438565.1:n.73-3067T>C | |
| ENST00000560968.5:c.700T>C | ||
| ENST00000615446.4:c.-257-2712T>C | ENSP00000483994.1:n.-257-2712T>C | |
| ENST00000617366.4:c.557T>C | ENSP00000481967.1:p.Ile186Thr | |
| NM_000545.5:c.557T>C , LRG_522t1:c.557T>C | NP_000536.5:p.Ile186Thr | |
| NM_000545.6:c.557T>C | NP_000536.5:p.Ile186Thr | |
| NM_001306179.1:c.557T>C | NP_001293108.1:p.Ile186Thr | |
| XM_005253931.2:c.557T>C | XP_005253988.1:p.Ile186Thr | |
| XM_024449168.1:c.557T>C | XP_024304936.1:p.Ile186Thr | |
| NM_000545.8:c.557T>C MANE Select | NP_000536.6:p.Ile186Thr | |
| NM_001306179.2:c.557T>C | NP_001293108.2:p.Ile186Thr |