Linked Data
ClinVar Variation Id:
4830
dbSNP Id:
rs111033348
ExAC:
7:107314771 C / T
gnomAD v2:
7-107314771-C-T
gnomAD v3:
7-107674326-C-T
gnomAD v4:
7-107674326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107674326C>T , CM000669.2:g.107674326C>T | GRCh38 |
| NC_000007.13:g.107314771C>T , CM000669.1:g.107314771C>T | GRCh37 |
| NC_000007.12:g.107102007C>T | NCBI36 |
| NG_008489.1:g.18692C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.578C>T MANE Select | ENSP00000494017.1:p.Thr193Ile | |
| ENST00000265715.7:c.578C>T | ENSP00000265715.3:p.Thr193Ile | |
| NM_000441.1:c.578C>T | NP_000432.1:p.Thr193Ile | |
| XM_005250425.1:c.578C>T | XP_005250482.1:p.Thr193Ile | |
| XM_006716025.2:c.578C>T | XP_006716088.1:p.Thr193Ile | |
| XM_005250425.2:c.578C>T | XP_005250482.1:p.Thr193Ile | |
| XM_006716025.3:c.578C>T | XP_006716088.1:p.Thr193Ile | |
| XM_017012318.1:c.578C>T | XP_016867807.1:p.Thr193Ile | |
| NM_000441.2:c.578C>T MANE Select | NP_000432.1:p.Thr193Ile |