Linked Data
ClinVar Variation Id:
183343
ClinVar RCV Id:
RCV000162176
dbSNP Id:
rs140119177
ExAC:
9:96209921 G / A
gnomAD v2:
9-96209921-G-A
gnomAD v3:
9-93447639-G-A
gnomAD v4:
9-93447639-G-A
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93447639G>A , CM000671.2:g.93447639G>A | GRCh38 |
| NC_000009.11:g.96209921G>A , CM000671.1:g.96209921G>A | GRCh37 |
| NC_000009.10:g.95249742G>A | NCBI36 |
| NG_054727.1:g.10963C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375412.11:c.743C>T MANE Select | ENSP00000364561.5:p.Thr248Ile | |
| ENST00000649557.1:c.197C>T | ENSP00000496904.1:p.Thr66Ile | |
| ENST00000650398.1:n.766C>T | ||
| ENST00000375412.9:c.743C>T | ENSP00000364561.5:p.Thr248Ile | |
| ENST00000423591.5:c.197C>T | ENSP00000414298.1:p.Thr66Ile | |
| ENST00000428152.1:n.459C>T | ||
| ENST00000428378.1:c.194C>T | ENSP00000416978.1:p.Thr65Ile | |
| ENST00000476484.5:c.*141C>T | ENSP00000429212.1:n.*141C>T | |
| ENST00000479094.5:n.760C>T | ||
| ENST00000483056.5:n.565C>T | ||
| ENST00000483149.6:n.698C>T | ||
| ENST00000520403.1:n.740C>T | ||
| ENST00000520470.5:n.819C>T | ||
| ENST00000523407.1:n.621C>T | ||
| NM_198841.2:c.743C>T | NP_942138.2:p.Thr248Ile | |
| XM_005251736.2:c.830C>T | XP_005251793.1:p.Thr277Ile | |
| NM_001322224.2:c.197C>T | NP_001309153.1:p.Thr66Ile | |
| NM_198841.3:c.743C>T | NP_942138.2:p.Thr248Ile | |
| NR_136229.2:n.1042C>T | ||
| NR_136230.2:n.1163C>T | ||
| NR_136231.2:n.1756C>T | ||
| NR_136232.2:n.968C>T | ||
| NR_136233.2:n.791C>T | ||
| NR_136234.2:n.825C>T | ||
| NR_136235.2:n.847C>T | ||
| NR_136236.2:n.1050C>T | ||
| NR_136237.2:n.1171C>T | ||
| NR_136238.2:n.912C>T | ||
| NM_198841.4:c.743C>T MANE Select | NP_942138.2:p.Thr248Ile | |
| NM_001322224.3:c.197C>T | NP_001309153.1:p.Thr66Ile | |
| NR_136231.3:n.1736C>T | ||
| NR_136232.3:n.965C>T | ||
| NR_136233.3:n.788C>T | ||
| NR_136234.3:n.822C>T | ||
| NR_136235.3:n.844C>T | ||
| NR_136236.3:n.1047C>T | ||
| NR_136237.3:n.1168C>T | ||
| NR_136238.3:n.909C>T |