Linked Data
ClinVar Variation Id:
2998417
ClinVar RCV Id:
RCV003857080
gnomAD v4:
7-21816607-C-T
MyVariant Identifiers:
chr7:g.21856225C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816607C>T , CM000669.2:g.21816607C>T | GRCh38 |
| NC_000007.13:g.21856225C>T , CM000669.1:g.21856225C>T | GRCh37 |
| NC_000007.12:g.21822750C>T | NCBI36 |
| NG_012886.2:g.278393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10473C>T MANE Select | ENSP00000475939.1:p.Arg3491= | |
| ENST00000328843.10:c.10494C>T | ENSP00000330671.7:p.Arg3498= | |
| ENST00000409508.7:c.10473C>T | ENSP00000475939.1:p.Arg3491= | |
| ENST00000620169.4:c.10494C>T | ENSP00000481693.1:p.Arg3498= | |
| NM_001277115.1:c.10473C>T | NP_001264044.1:p.Arg3491= | |
| NM_001277115.2:c.10473C>T MANE Select | NP_001264044.1:p.Arg3491= |