Linked Data
ClinVar Variation Id:
454676
ClinVar RCV Id:
RCV000557975
dbSNP Id:
rs1286036654
gnomAD v2:
7-21675555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21635937C>T , CM000669.2:g.21635937C>T | GRCh38 |
| NC_000007.13:g.21675555C>T , CM000669.1:g.21675555C>T | GRCh37 |
| NC_000007.12:g.21642080C>T | NCBI36 |
| NG_012886.2:g.97723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4567C>T MANE Select | ENSP00000475939.1:p.Gln1523Ter | |
| ENST00000328843.10:c.4582C>T | ENSP00000330671.7:p.Gln1528Ter | |
| ENST00000409508.7:c.4567C>T | ENSP00000475939.1:p.Gln1523Ter | |
| ENST00000465593.1:n.593C>T | ||
| ENST00000620169.4:c.4582C>T | ENSP00000481693.1:p.Gln1528Ter | |
| NM_001277115.1:c.4567C>T | NP_001264044.1:p.Gln1523Ter | |
| NM_001277115.2:c.4567C>T MANE Select | NP_001264044.1:p.Gln1523Ter |