Linked Data
ClinVar Variation Id:
3092
dbSNP Id:
rs28940895
ExAC:
22:51063874 G / A
gnomAD v2:
22-51063874-G-A
gnomAD v3:
22-50625446-G-A
gnomAD v4:
22-50625446-G-A
PubMed:
PMID:11456299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625446G>A , CM000684.2:g.50625446G>A | GRCh38 |
| NC_000022.10:g.51063874G>A , CM000684.1:g.51063874G>A | GRCh37 |
| NC_000022.9:g.49410740G>A | NCBI36 |
| NG_009260.2:g.7734C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.1229C>T MANE Select | ENSP00000216124.5:p.Thr410Ile | |
| ENST00000216124.9:c.1229C>T | ENSP00000216124.5:p.Thr410Ile | |
| ENST00000356098.9:c.1229C>T | ENSP00000348406.5:p.Thr410Ile | |
| ENST00000395619.3:c.1229C>T | ENSP00000378981.3:p.Thr410Ile | |
| ENST00000395621.7:c.1229C>T | ENSP00000378983.3:p.Thr410Ile | |
| ENST00000453344.6:c.971C>T | ENSP00000412542.2:p.Thr324Ile | |
| ENST00000608497.1:c.97C>T | ||
| NM_000487.5:c.1229C>T | NP_000478.3:p.Thr410Ile | |
| NM_001085425.2:c.1229C>T | NP_001078894.2:p.Thr410Ile | |
| NM_001085426.2:c.1229C>T | NP_001078895.2:p.Thr410Ile | |
| NM_001085427.2:c.1229C>T | NP_001078896.2:p.Thr410Ile | |
| NM_001085428.2:c.971C>T | NP_001078897.1:p.Thr324Ile | |
| XM_011530690.1:c.971C>T | XP_011528992.1:p.Thr324Ile | |
| XM_011530691.1:c.1126C>T | XP_011528993.1:p.Pro376Ser | |
| NM_001362782.1:c.971C>T | NP_001349711.1:p.Thr324Ile | |
| XM_011530691.3:c.1126C>T | XP_011528993.1:p.Pro376Ser | |
| XM_017028800.1:c.1343C>T | XP_016884289.1:p.Thr448Ile | |
| XM_024452241.1:c.1126C>T | XP_024308009.1:p.Pro376Ser | |
| NM_000487.6:c.1229C>T MANE Select | NP_000478.3:p.Thr410Ile | |
| NM_001085425.3:c.1229C>T | NP_001078894.2:p.Thr410Ile | |
| NM_001085426.3:c.1229C>T | NP_001078895.2:p.Thr410Ile | |
| NM_001085427.3:c.1229C>T | NP_001078896.2:p.Thr410Ile | |
| NM_001085428.3:c.971C>T | NP_001078897.1:p.Thr324Ile | |
| NM_001362782.2:c.971C>T | NP_001349711.1:p.Thr324Ile |