Linked Data
ClinVar Variation Id:
66382
ClinVar RCV Id:
RCV000056757
dbSNP Id:
rs60090257
gnomAD v2:
17-39740024-C-T
gnomAD v4:
17-41583772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583772C>T , CM000679.2:g.41583772C>T | GRCh38 |
| NC_000017.10:g.39740024C>T , CM000679.1:g.39740024C>T | GRCh37 |
| NC_000017.9:g.36993550C>T | NCBI36 |
| NG_008624.1:g.8124G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.915G>A MANE Select | ENSP00000167586.6:p.Trp305Ter | |
| ENST00000167586.6:c.915G>A | ENSP00000167586.6:p.Trp305Ter | |
| ENST00000476662.1:n.365G>A | ||
| NM_000526.4:c.915G>A | NP_000517.2:p.Trp305Ter | |
| NM_000526.5:c.915G>A MANE Select | NP_000517.3:p.Trp305Ter |