Linked Data
ClinVar Variation Id:
36618
dbSNP Id:
rs193922629
gnomAD v2:
16-15831366-A-G
gnomAD v3:
16-15737509-A-G
gnomAD v4:
16-15737509-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15737509A>G , CM000678.2:g.15737509A>G | GRCh38 |
| NC_000016.9:g.15831366A>G , CM000678.1:g.15831366A>G | GRCh37 |
| NC_000016.8:g.15738867A>G | NCBI36 |
| NG_009299.1:g.124522T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300036.6:c.3233T>C MANE Select | ENSP00000300036.5:p.Ile1078Thr | |
| ENST00000452625.7:c.3254T>C MANE Plus Clinical | ENSP00000407821.2:p.Ile1085Thr | |
| ENST00000576790.7:c.3233T>C | ENSP00000458731.1:p.Ile1078Thr | |
| ENST00000652121.1:c.*1416T>C | ENSP00000498314.1:n.*1416T>C | |
| ENST00000300036.5:c.3233T>C | ENSP00000300036.5:p.Ile1078Thr | |
| ENST00000396324.7:c.3254T>C | ENSP00000379616.3:p.Ile1085Thr | |
| ENST00000452625.6:c.3254T>C | ENSP00000407821.2:p.Ile1085Thr | |
| ENST00000576790.6:c.3233T>C | ENSP00000458731.1:p.Ile1078Thr | |
| ENST00000616439.4:c.3254T>C | ENSP00000484924.1:p.Ile1085Thr | |
| NM_001040113.1:c.3254T>C | NP_001035202.1:p.Ile1085Thr | |
| NM_001040114.1:c.3254T>C | NP_001035203.1:p.Ile1085Thr | |
| NM_002474.2:c.3233T>C | NP_002465.1:p.Ile1078Thr | |
| NM_022844.2:c.3233T>C | NP_074035.1:p.Ile1078Thr | |
| XM_011522502.1:c.3233T>C | XP_011520804.1:p.Ile1078Thr | |
| XM_011522502.2:c.3233T>C | XP_011520804.1:p.Ile1078Thr | |
| XM_017023250.1:c.3254T>C | XP_016878739.1:p.Ile1085Thr | |
| NM_002474.3:c.3233T>C MANE Select | NP_002465.1:p.Ile1078Thr | |
| NM_001040113.2:c.3254T>C MANE Plus Clinical | NP_001035202.1:p.Ile1085Thr | |
| NM_001040114.2:c.3254T>C | NP_001035203.1:p.Ile1085Thr | |
| NM_022844.3:c.3233T>C | NP_074035.1:p.Ile1078Thr |