Linked Data
ClinVar Variation Id:
2577828
ClinVar RCV Id:
RCV003325165
dbSNP Id:
rs201227619
ExAC:
7:107314720 T / C
gnomAD v2:
7-107314720-T-C
gnomAD v3:
7-107674275-T-C
gnomAD v4:
7-107674275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107674275T>C , CM000669.2:g.107674275T>C | GRCh38 |
| NC_000007.13:g.107314720T>C , CM000669.1:g.107314720T>C | GRCh37 |
| NC_000007.12:g.107101956T>C | NCBI36 |
| NG_008489.1:g.18641T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.527T>C MANE Select | ENSP00000494017.1:p.Ile176Thr | |
| ENST00000265715.7:c.527T>C | ENSP00000265715.3:p.Ile176Thr | |
| NM_000441.1:c.527T>C | NP_000432.1:p.Ile176Thr | |
| XM_005250425.1:c.527T>C | XP_005250482.1:p.Ile176Thr | |
| XM_006716025.2:c.527T>C | XP_006716088.1:p.Ile176Thr | |
| XM_005250425.2:c.527T>C | XP_005250482.1:p.Ile176Thr | |
| XM_006716025.3:c.527T>C | XP_006716088.1:p.Ile176Thr | |
| XM_017012318.1:c.527T>C | XP_016867807.1:p.Ile176Thr | |
| NM_000441.2:c.527T>C MANE Select | NP_000432.1:p.Ile176Thr |