Linked Data
ClinVar Variation Id:
2915114
ClinVar RCV Id:
RCV003652954
dbSNP Id:
rs1335316744
gnomAD v2:
7-21639390-C-T
gnomAD v4:
7-21599772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21599772C>T , CM000669.2:g.21599772C>T | GRCh38 |
| NC_000007.13:g.21639390C>T , CM000669.1:g.21639390C>T | GRCh37 |
| NC_000007.12:g.21605915C>T | NCBI36 |
| NG_012886.2:g.61558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2668-15C>T MANE Select | ENSP00000475939.1:n.2668-15C>T | |
| ENST00000328843.10:c.2668-15C>T | ENSP00000330671.7:n.2668-15C>T | |
| ENST00000409508.7:c.2668-15C>T | ENSP00000475939.1:n.2668-15C>T | |
| ENST00000620169.4:c.2668-15C>T | ENSP00000481693.1:n.2668-15C>T | |
| NM_001277115.1:c.2668-15C>T | NP_001264044.1:n.2668-15C>T | |
| NM_001277115.2:c.2668-15C>T MANE Select | NP_001264044.1:n.2668-15C>T |