Linked Data
dbSNP Id:
rs767148875
ExAC:
7:21788223 A / T
gnomAD v2:
7-21788223-A-T
gnomAD v4:
7-21748605-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21748605A>T , CM000669.2:g.21748605A>T | GRCh38 |
| NC_000007.13:g.21788223A>T , CM000669.1:g.21788223A>T | GRCh37 |
| NC_000007.12:g.21754748A>T | NCBI36 |
| NG_012886.2:g.210391A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8536A>T MANE Select | ENSP00000475939.1:p.Thr2846Ser | |
| ENST00000328843.10:c.8557A>T | ENSP00000330671.7:p.Thr2853Ser | |
| ENST00000409508.7:c.8536A>T | ENSP00000475939.1:p.Thr2846Ser | |
| ENST00000620169.4:c.8557A>T | ENSP00000481693.1:p.Thr2853Ser | |
| NM_001277115.1:c.8536A>T | NP_001264044.1:p.Thr2846Ser | |
| NM_001277115.2:c.8536A>T MANE Select | NP_001264044.1:p.Thr2846Ser |