Linked Data
ClinVar Variation Id:
305021
dbSNP Id:
rs182779591
gnomAD v2:
11-57367527-C-T
gnomAD v3:
11-57600054-C-T
gnomAD v4:
11-57600054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57600054C>T , CM000673.2:g.57600054C>T | GRCh38 |
| NC_000011.9:g.57367527C>T , CM000673.1:g.57367527C>T | GRCh37 |
| NC_000011.8:g.57124103C>T | NCBI36 |
| NG_009625.1:g.7501C>T , LRG_105:g.7501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.227C>T MANE Select | ENSP00000278407.4:p.Thr76Ile | |
| ENST00000528996.2:c.58+1726C>T | ENSP00000431226.2:n.58+1726C>T | |
| ENST00000531605.2:c.51+1733C>T | ENSP00000503752.1:n.51+1733C>T | |
| ENST00000619430.2:c.227C>T | ENSP00000478572.2:p.Thr76Ile | |
| ENST00000676670.1:c.227C>T | ENSP00000504807.1:p.Thr76Ile | |
| ENST00000676741.1:n.1309C>T | ||
| ENST00000677275.1:n.214C>T | ||
| ENST00000677624.1:c.227C>T | ENSP00000503979.1:p.Thr76Ile | |
| ENST00000677625.1:c.227C>T | ENSP00000502857.1:p.Thr76Ile | |
| ENST00000677856.1:n.286C>T | ||
| ENST00000677915.1:c.227C>T | ENSP00000503118.1:p.Thr76Ile | |
| ENST00000678533.1:c.51+1733C>T | ENSP00000503873.1:n.51+1733C>T | |
| ENST00000678592.1:c.227C>T | ENSP00000504424.1:p.Thr76Ile | |
| ENST00000278407.8:c.227C>T | ENSP00000278407.4:p.Thr76Ile | |
| ENST00000340687.10:c.227C>T | ENSP00000341861.6:p.Thr76Ile | |
| ENST00000378323.8:c.242C>T | ENSP00000367574.4:p.Thr81Ile | |
| ENST00000378324.6:c.71C>T | ENSP00000367575.2:p.Thr24Ile | |
| ENST00000403558.1:c.329C>T | ENSP00000384420.1:p.Thr110Ile | |
| ENST00000405496.5:c.227C>T | ENSP00000384561.1:p.Thr76Ile | |
| ENST00000457869.1:c.329C>T | ENSP00000399746.1:p.Thr110Ile | |
| ENST00000531133.5:c.51+1733C>T | ENSP00000435431.1:n.51+1733C>T | |
| ENST00000531797.5:c.51+1733C>T | ENSP00000432554.1:n.51+1733C>T | |
| ENST00000619430.1:c.227C>T | ENSP00000478572.1:p.Thr76Ile | |
| NM_000062.2:c.227C>T , LRG_105t1:c.227C>T | NP_000053.2:p.Thr76Ile | |
| NM_001032295.1:c.227C>T | NP_001027466.1:p.Thr76Ile | |
| NM_000062.3:c.227C>T MANE Select | NP_000053.2:p.Thr76Ile | |
| NM_001032295.2:c.227C>T | NP_001027466.1:p.Thr76Ile |