Linked Data
ClinVar Variation Id:
238906
ClinVar RCV Id:
RCV000226298
dbSNP Id:
rs878854441
gnomAD v4:
7-21600797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21600797G>A , CM000669.2:g.21600797G>A | GRCh38 |
| NC_000007.13:g.21640415G>A , CM000669.1:g.21640415G>A | GRCh37 |
| NC_000007.12:g.21606940G>A | NCBI36 |
| NG_012886.2:g.62583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.3122G>A MANE Select | ENSP00000475939.1:p.Trp1041Ter | |
| ENST00000328843.10:c.3122G>A | ENSP00000330671.7:p.Trp1041Ter | |
| ENST00000409508.7:c.3122G>A | ENSP00000475939.1:p.Trp1041Ter | |
| ENST00000620169.4:c.3122G>A | ENSP00000481693.1:p.Trp1041Ter | |
| NM_001277115.1:c.3122G>A | NP_001264044.1:p.Trp1041Ter | |
| NM_001277115.2:c.3122G>A MANE Select | NP_001264044.1:p.Trp1041Ter |