Linked Data
ClinVar Variation Id:
358778
ClinVar RCV Id:
RCV000361587
dbSNP Id:
rs712699
gnomAD v2:
7-127250597-G-A
gnomAD v3:
7-127610543-G-A
gnomAD v4:
7-127610543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127610543G>A , CM000669.2:g.127610543G>A | GRCh38 |
| NC_000007.13:g.127250597G>A , CM000669.1:g.127250597G>A | GRCh37 |
| NC_000007.12:g.127037833G>A | NCBI36 |
| NG_012848.1:g.10184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.*521C>T MANE Select | ENSP00000491782.1:n.*521C>T | |
| ENST00000341640.6:c.*521C>T | ENSP00000339906.2:n.*521C>T | |
| NM_006193.2:c.*521C>T | NP_006184.2:n.*521C>T | |
| NM_001366110.1:c.*521C>T MANE Select | NP_001353039.1:n.*521C>T | |
| NM_001366111.1:c.*309C>T | NP_001353040.1:n.*309C>T |