ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000349716
0.732
ENST00000310346
0.732
ENST00000405440 (MANE Select)
0.732
ENST00000526441
0.732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114401907A>G , CM000674.2:g.114401907A>G | GRCh38 |
| NC_000012.11:g.114839712A>G , CM000674.1:g.114839712A>G | GRCh37 |
| NC_000012.10:g.113324095A>G | NCBI36 |
| NG_007373.1:g.11536T>C , LRG_670:g.11536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.161T>C MANE Select | ENSP00000384152.3:p.Ile54Thr | |
| ENST00000310346.8:c.161T>C | ENSP00000309913.4:p.Ile54Thr | |
| ENST00000349716.9:c.11T>C | ENSP00000337723.5:p.Ile4Thr | |
| ENST00000405440.6:c.161T>C | ENSP00000384152.2:p.Ile54Thr | |
| ENST00000526441.1:c.161T>C | ENSP00000433292.1:p.Ile54Thr | |
| ENST00000552726.1:n.212T>C | ||
| NM_000192.3:c.161T>C , LRG_670t1:c.161T>C | NP_000183.2:p.Ile54Thr | |
| NM_080717.2:c.11T>C | NP_542448.1:p.Ile4Thr | |
| NM_181486.2:c.161T>C | NP_852259.1:p.Ile54Thr | |
| XM_017019912.1:c.209T>C | XP_016875401.1:p.Ile70Thr | |
| NM_080717.3:c.11T>C | NP_542448.1:p.Ile4Thr | |
| NM_181486.4:c.161T>C MANE Select | NP_852259.1:p.Ile54Thr | |
| NM_080717.4:c.11T>C | NP_542448.1:p.Ile4Thr |