Linked Data
ClinVar Variation Id:
2897623
ClinVar RCV Id:
RCV003651331
dbSNP Id:
rs746389515
ExAC:
7:21658744 A / T
gnomAD v2:
7-21658744-A-T
gnomAD v4:
7-21619126-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619126A>T , CM000669.2:g.21619126A>T | GRCh38 |
| NC_000007.13:g.21658744A>T , CM000669.1:g.21658744A>T | GRCh37 |
| NC_000007.12:g.21625269A>T | NCBI36 |
| NG_012886.2:g.80912A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4281A>T MANE Select | ENSP00000475939.1:p.Thr1427= | |
| ENST00000328843.10:c.4296A>T | ENSP00000330671.7:p.Thr1432= | |
| ENST00000409508.7:c.4281A>T | ENSP00000475939.1:p.Thr1427= | |
| ENST00000465593.1:n.307A>T | ||
| ENST00000620169.4:c.4296A>T | ENSP00000481693.1:p.Thr1432= | |
| NM_001277115.1:c.4281A>T | NP_001264044.1:p.Thr1427= | |
| NM_001277115.2:c.4281A>T MANE Select | NP_001264044.1:p.Thr1427= |