Linked Data
dbSNP Id:
rs372326089
ExAC:
6:25813192 A / G
gnomAD v2:
6-25813192-A-G
gnomAD v3:
6-25812964-A-G
gnomAD v4:
6-25812964-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25812964A>G , CM000668.2:g.25812964A>G | GRCh38 |
| NC_000006.11:g.25813192A>G , CM000668.1:g.25813192A>G | GRCh37 |
| NC_000006.10:g.25921171A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.764T>C MANE Select | ENSP00000244527.4:p.Ile255Thr | |
| ENST00000244527.8:c.764T>C | ENSP00000244527.4:p.Ile255Thr | |
| ENST00000377886.6:c.*15T>C | ENSP00000367118.2:n.*15T>C | |
| ENST00000468082.1:c.735+131T>C | ENSP00000420546.1:n.735+131T>C | |
| ENST00000476801.5:c.764T>C | ENSP00000420614.1:p.Ile255Thr | |
| NM_005074.3:c.764T>C | NP_005065.2:p.Ile255Thr | |
| XM_011514818.1:c.764T>C | XP_011513120.1:p.Ile255Thr | |
| XM_011514819.1:c.677T>C | XP_011513121.1:p.Ile226Thr | |
| XM_011514820.1:c.735+131T>C | XP_011513122.1:n.735+131T>C | |
| XM_011514821.1:c.551T>C | XP_011513123.1:p.Ile184Thr | |
| XM_011514818.2:c.914T>C | XP_011513120.2:p.Ile305Thr | |
| XM_011514819.2:c.827T>C | XP_011513121.2:p.Ile276Thr | |
| XM_011514820.2:c.885+131T>C | XP_011513122.2:n.885+131T>C | |
| XM_011514821.2:c.551T>C | XP_011513123.1:p.Ile184Thr | |
| XM_017011199.1:c.914T>C | XP_016866688.1:p.Ile305Thr | |
| XM_017011200.1:c.914T>C | XP_016866689.1:p.Ile305Thr | |
| XM_017011201.2:c.914T>C | XP_016866690.1:p.Ile305Thr | |
| XM_017011202.1:c.830T>C | XP_016866691.1:p.Ile277Thr | |
| NM_005074.5:c.764T>C MANE Select | NP_005065.2:p.Ile255Thr |