Linked Data
ClinVar Variation Id:
135092
dbSNP Id:
rs587778626
gnomAD v4:
17-68524939-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68524939T>C , CM000679.2:g.68524939T>C | GRCh38 |
| NC_000017.10:g.66521080T>C , CM000679.1:g.66521080T>C | GRCh37 |
| NC_000017.9:g.64032675T>C | NCBI36 |
| NG_007093.3:g.116317T>C , LRG_514:g.116317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.530T>C | ENSP00000468106.2:p.Ile177Thr | |
| ENST00000711037.1:c.530T>C | ENSP00000518555.1:p.Ile177Thr | |
| ENST00000585427.6:c.530T>C | ENSP00000464715.2:p.Ile177Thr | |
| ENST00000585981.6:c.530T>C | ENSP00000467311.2:p.Ile177Thr | |
| ENST00000588178.6:c.530T>C | ENSP00000465013.2:p.Ile177Thr | |
| ENST00000589017.6:c.530T>C | ENSP00000465445.2:p.Ile177Thr | |
| ENST00000589480.6:c.530T>C | ENSP00000466649.2:p.Ile177Thr | |
| ENST00000592800.6:c.530T>C | ENSP00000466314.2:p.Ile177Thr | |
| ENST00000686019.1:n.649T>C | ||
| ENST00000689501.1:n.1927T>C | ||
| ENST00000691392.1:n.1497T>C | ||
| ENST00000589228.6:c.530T>C MANE Select | ENSP00000464977.2:p.Ile177Thr | |
| ENST00000358598.6:c.530T>C | ENSP00000351410.1:p.Ile177Thr | |
| ENST00000392710.8:c.*145T>C | ENSP00000376474.4:n.*145T>C | |
| ENST00000392711.5:c.530T>C | ENSP00000376475.1:p.Ile177Thr | |
| ENST00000536854.6:c.530T>C | ENSP00000445625.1:p.Ile177Thr | |
| ENST00000585608.5:c.*145T>C | ENSP00000466722.1:n.*145T>C | |
| ENST00000585981.5:c.530T>C | ENSP00000467311.1:p.Ile177Thr | |
| ENST00000586397.5:c.530T>C | ENSP00000466459.1:p.Ile177Thr | |
| ENST00000588178.5:c.530T>C | ENSP00000465013.1:p.Ile177Thr | |
| ENST00000588188.6:c.530T>C | ENSP00000468106.2:p.Ile177Thr | |
| ENST00000589017.5:c.530T>C | ENSP00000465445.1:p.Ile177Thr | |
| ENST00000589228.5:c.530T>C | ENSP00000464977.1:p.Ile177Thr | |
| NM_001276289.1:c.530T>C | NP_001263218.1:p.Ile177Thr | |
| NM_001276290.1:c.530T>C | NP_001263219.1:p.Ile177Thr | |
| NM_001278433.1:c.530T>C | NP_001265362.1:p.Ile177Thr | |
| NM_002734.4:c.530T>C , LRG_514t1:c.530T>C | NP_002725.1:p.Ile177Thr | |
| NM_212471.2:c.530T>C | NP_997636.1:p.Ile177Thr | |
| NM_212472.2:c.530T>C , LRG_514t2:c.530T>C | NP_997637.1:p.Ile177Thr | |
| XM_011524983.1:c.530T>C | XP_011523285.1:p.Ile177Thr | |
| XM_011524984.1:c.530T>C | XP_011523286.1:p.Ile177Thr | |
| XM_011524985.1:c.530T>C | XP_011523287.1:p.Ile177Thr | |
| XM_011524983.3:c.530T>C | XP_011523285.1:p.Ile177Thr | |
| XM_011524984.3:c.530T>C | XP_011523286.1:p.Ile177Thr | |
| XM_011524985.3:c.530T>C | XP_011523287.1:p.Ile177Thr | |
| NM_001369389.1:c.530T>C | NP_001356318.1:p.Ile177Thr | |
| NM_001369390.1:c.530T>C | NP_001356319.1:p.Ile177Thr | |
| NM_002734.5:c.530T>C MANE Select | NP_002725.1:p.Ile177Thr | |
| NM_001276289.2:c.530T>C | NP_001263218.1:p.Ile177Thr | |
| NM_001278433.2:c.530T>C | NP_001265362.1:p.Ile177Thr | |
| NM_212471.3:c.530T>C | NP_997636.1:p.Ile177Thr |