Linked Data
ClinVar Variation Id:
15902
ClinVar RCV Id:
RCV000017249
dbSNP Id:
rs104894517
ExAC:
16:72094308 T / C
gnomAD v2:
16-72094308-T-C
gnomAD v3:
16-72060409-T-C
gnomAD v4:
16-72060409-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72060409T>C , CM000678.2:g.72060409T>C | GRCh38 |
| NC_000016.9:g.72094308T>C , CM000678.1:g.72094308T>C | GRCh37 |
| NC_000016.8:g.70651809T>C | NCBI36 |
| NG_012651.1:g.10801T>C | |
| NG_030311.1:g.2184T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355906.10:c.740T>C (HP) MANE Select | ENSP00000348170.5:p.Ile247Thr | |
| ENST00000228226.12:c.365T>C (HP) | ENSP00000228226.9:p.Ile122Thr | |
| ENST00000355906.9:c.740T>C (HP) | ENSP00000348170.5:p.Ile247Thr | |
| ENST00000357763.8:c.848T>C (HP) | ENSP00000350406.5:p.Ile283Thr | |
| ENST00000398131.6:c.563T>C (HP) | ENSP00000381199.2:p.Ile188Thr | |
| ENST00000562153.5:c.285-16052A>G (TXNL4B) | ENSP00000454635.1:n.285-16052A>G | |
| ENST00000562526.5:c.266-254T>C (HP) | ENSP00000454413.1:n.266-254T>C | |
| ENST00000564499.5:c.443T>C (HP) | ENSP00000456503.1:p.Ile148Thr | |
| ENST00000565574.5:c.563T>C (HP) | ENSP00000454966.1:p.Ile188Thr | |
| ENST00000566821.1:n.2379T>C (HP) | ||
| ENST00000567185.7:c.732T>C (HP) | ||
| ENST00000567612.2:c.615T>C (HP) | ||
| ENST00000570083.5:c.563T>C (HP) | ENSP00000457629.1:p.Ile188Thr | |
| ENST00000613898.1:c.365T>C (HP) | ENSP00000478279.1:p.Ile122Thr | |
| NM_001126102.1:c.563T>C (HP) | NP_001119574.1:p.Ile188Thr | |
| NM_005143.3:c.740T>C (HP) | NP_005134.1:p.Ile247Thr | |
| XM_005255922.3:c.563T>C (HP) | XP_005255979.2:p.Ile188Thr | |
| NM_001126102.2:c.563T>C (HP) | NP_001119574.1:p.Ile188Thr | |
| NM_001318138.1:c.563T>C (HP) | NP_001305067.1:p.Ile188Thr | |
| NM_005143.4:c.740T>C (HP) | NP_005134.1:p.Ile247Thr | |
| XM_017023377.2:c.285-16052A>G (TXNL4B) | XP_016878866.1:n.285-16052A>G | |
| NM_001318138.2:c.563T>C (HP) | NP_001305067.1:p.Ile188Thr | |
| NM_005143.5:c.740T>C (HP) MANE Select | NP_005134.1:p.Ile247Thr | |
| NM_001126102.3:c.563T>C (HP) | NP_001119574.1:p.Ile188Thr |