Linked Data
dbSNP Id:
rs370308778
ExAC:
5:110097460 C / T
gnomAD v2:
5-110097460-C-T
gnomAD v3:
5-110761760-C-T
gnomAD v4:
5-110761760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761760C>T , CM000667.2:g.110761760C>T | GRCh38 |
| NC_000005.9:g.110097460C>T , CM000667.1:g.110097460C>T | GRCh37 |
| NC_000005.8:g.110125359C>T | NCBI36 |
| NG_051334.1:g.28625C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.1235C>T MANE Select | ENSP00000348211.3:p.Thr412Ile | |
| ENST00000355943.7:c.1235C>T | ENSP00000348211.3:p.Thr412Ile | |
| ENST00000447245.6:c.992C>T | ENSP00000399717.2:p.Thr331Ile | |
| ENST00000504098.1:c.797C>T | ENSP00000425708.1:p.Thr266Ile | |
| ENST00000509432.1:c.596C>T | ENSP00000426604.1:p.Thr199Ile | |
| ENST00000513706.2:n.2835C>T | ||
| ENST00000513807.5:c.749C>T | ENSP00000421134.1:p.Thr250Ile | |
| NM_001303249.1:c.992C>T | NP_001290178.1:p.Thr331Ile | |
| NM_001303250.1:c.962C>T | NP_001290179.1:p.Thr321Ile | |
| NM_138773.2:c.1235C>T | NP_620128.1:p.Thr412Ile | |
| NM_001303249.2:c.992C>T | NP_001290178.1:p.Thr331Ile | |
| NM_001303250.2:c.962C>T | NP_001290179.1:p.Thr321Ile | |
| NM_138773.3:c.1235C>T | NP_620128.1:p.Thr412Ile | |
| NR_138151.1:n.1509C>T | ||
| NM_138773.4:c.1235C>T MANE Select | NP_620128.1:p.Thr412Ile | |
| NM_001303249.3:c.992C>T | NP_001290178.1:p.Thr331Ile | |
| NM_001303250.3:c.962C>T | NP_001290179.1:p.Thr321Ile | |
| NR_138151.2:n.1474C>T |