Linked Data
ClinVar Variation Id:
525395
ClinVar RCV Id:
RCV000629451
dbSNP Id:
rs376421903
ExAC:
7:21781728 A / G
gnomAD v2:
7-21781728-A-G
gnomAD v3:
7-21742110-A-G
gnomAD v4:
7-21742110-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21742110A>G , CM000669.2:g.21742110A>G | GRCh38 |
| NC_000007.13:g.21781728A>G , CM000669.1:g.21781728A>G | GRCh37 |
| NC_000007.12:g.21748253A>G | NCBI36 |
| NG_012886.2:g.203896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8098A>G MANE Select | ENSP00000475939.1:p.Thr2700Ala | |
| ENST00000328843.10:c.8119A>G | ENSP00000330671.7:p.Thr2707Ala | |
| ENST00000409508.7:c.8098A>G | ENSP00000475939.1:p.Thr2700Ala | |
| ENST00000605912.1:c.474+2437A>G | ENSP00000476068.1:n.474+2437A>G | |
| ENST00000620169.4:c.8119A>G | ENSP00000481693.1:p.Thr2707Ala | |
| NM_001277115.1:c.8098A>G | NP_001264044.1:p.Thr2700Ala | |
| NM_001277115.2:c.8098A>G MANE Select | NP_001264044.1:p.Thr2700Ala |