Linked Data
ClinVar Variation Id:
225435
dbSNP Id:
rs752738349
ExAC:
4:656386 C / T
gnomAD v2:
4-656386-C-T
gnomAD v3:
4-662597-C-T
gnomAD v4:
4-662597-C-T
PubMed:
PMID:18310263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.662597C>T , CM000666.2:g.662597C>T | GRCh38 |
| NC_000004.11:g.656386C>T , CM000666.1:g.656386C>T | GRCh37 |
| NC_000004.10:g.646386C>T | NCBI36 |
| NG_009839.1:g.42024C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.1811C>T MANE Select | ENSP00000420295.1:p.Thr604Ile | |
| ENST00000255622.10:c.1811C>T | ENSP00000255622.6:p.Thr604Ile | |
| ENST00000429163.6:c.974C>T | ENSP00000406334.2:p.Thr325Ile | |
| ENST00000496514.5:c.1811C>T | ENSP00000420295.1:p.Thr604Ile | |
| NM_000283.3:c.1811C>T | NP_000274.2:p.Thr604Ile | |
| NM_001145291.1:c.1811C>T | NP_001138763.1:p.Thr604Ile | |
| NM_001145292.1:c.974C>T | NP_001138764.1:p.Thr325Ile | |
| XM_011513473.1:c.2030C>T | XP_011511775.1:p.Thr677Ile | |
| XM_011513474.1:c.2030C>T | XP_011511776.1:p.Thr677Ile | |
| XM_011513475.1:c.1811C>T | XP_011511777.1:p.Thr604Ile | |
| XM_011513476.1:c.2030C>T | XP_011511778.1:p.Thr677Ile | |
| XM_011513477.1:c.1016C>T | XP_011511779.1:p.Thr339Ile | |
| XM_011513478.1:c.740C>T | XP_011511780.1:p.Thr247Ile | |
| XR_925029.1:n.203G>A | ||
| NM_001350154.1:c.974C>T | NP_001337083.1:p.Thr325Ile | |
| NM_001350155.1:c.656C>T | NP_001337084.1:p.Thr219Ile | |
| XM_011513473.3:c.2030C>T | XP_011511775.1:p.Thr677Ile | |
| XM_011513474.3:c.2030C>T | XP_011511776.1:p.Thr677Ile | |
| XM_011513475.2:c.1811C>T | XP_011511777.1:p.Thr604Ile | |
| XM_011513476.3:c.2030C>T | XP_011511778.1:p.Thr677Ile | |
| XM_011513478.2:c.740C>T | XP_011511780.1:p.Thr247Ile | |
| XM_017008284.1:c.974C>T | XP_016863773.1:p.Thr325Ile | |
| XM_017008285.1:c.974C>T | XP_016863774.1:p.Thr325Ile | |
| XM_017008286.1:c.974C>T | XP_016863775.1:p.Thr325Ile | |
| NM_001350154.2:c.974C>T | NP_001337083.1:p.Thr325Ile | |
| NM_001350155.2:c.656C>T | NP_001337084.1:p.Thr219Ile | |
| NM_000283.4:c.1811C>T MANE Select | NP_000274.3:p.Thr604Ile | |
| NM_001145291.2:c.1811C>T | NP_001138763.2:p.Thr604Ile | |
| NM_001145292.2:c.974C>T | NP_001138764.2:p.Thr325Ile | |
| NM_001350154.3:c.974C>T | NP_001337083.1:p.Thr325Ile | |
| NM_001350155.3:c.656C>T | NP_001337084.1:p.Thr219Ile | |
| NM_001379246.1:c.974C>T | NP_001366175.1:p.Thr325Ile | |
| NM_001379247.1:c.974C>T | NP_001366176.1:p.Thr325Ile |