Linked Data
ClinVar Variation Id:
217609
ClinVar RCV Id:
RCV000201617
dbSNP Id:
rs863225176
gnomAD v4:
4-15589591-T-C
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15589591T>C , CM000666.2:g.15589591T>C | GRCh38 |
| NC_000004.11:g.15591214T>C , CM000666.1:g.15591214T>C | GRCh37 |
| NC_000004.10:g.15200312T>C | NCBI36 |
| NG_013035.1:g.124726T>C , LRG_697:g.124726T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.4262T>C | ENSP00000374303.8:p.Ile1421Thr | |
| ENST00000424120.6:c.4226T>C MANE Select | ENSP00000403465.1:p.Ile1409Thr | |
| ENST00000503292.6:c.4226T>C | ENSP00000421809.1:p.Ile1409Thr | |
| ENST00000506643.5:c.4079T>C | ENSP00000422931.2:p.Ile1360Thr | |
| ENST00000514039.6:c.455T>C | ENSP00000488534.2:p.Ile152Thr | |
| ENST00000634028.2:c.4079T>C | ENSP00000488669.2:p.Ile1360Thr | |
| ENST00000650860.2:c.*1723T>C | ENSP00000498775.1:n.*1723T>C | |
| ENST00000674945.1:c.3902T>C | ENSP00000502333.1:p.Ile1301Thr | |
| ENST00000675768.1:n.1446T>C | ||
| ENST00000680586.1:n.4885T>C | ||
| ENST00000389652.9:c.3724T>C | ||
| ENST00000424120.5:c.4226T>C | ENSP00000403465.1:p.Ile1409Thr | |
| ENST00000503292.5:c.4226T>C | ENSP00000421809.1:p.Ile1409Thr | |
| ENST00000506643.4:c.2554T>C | ||
| ENST00000634028.1:c.4032T>C | ENSP00000488669.1:n.4032T>C | |
| NM_001080522.2:c.4226T>C , LRG_697t1:c.4226T>C | NP_001073991.2:p.Ile1409Thr | |
| XM_005248177.1:c.4226T>C | XP_005248234.1:p.Ile1409Thr | |
| XM_011513869.1:c.4244T>C | XP_011512171.1:p.Ile1415Thr | |
| XM_011513870.1:c.4244T>C | XP_011512172.1:p.Ile1415Thr | |
| XM_011513871.1:c.4097T>C | XP_011512173.1:p.Ile1366Thr | |
| XM_017008482.1:c.4079T>C | XP_016863971.1:p.Ile1360Thr | |
| NM_001378615.1:c.4226T>C MANE Select | NP_001365544.1:p.Ile1409Thr | |
| NM_001378617.1:c.4079T>C | NP_001365546.1:p.Ile1360Thr |