Linked Data
ClinVar Variation Id:
3040338
ClinVar RCV Id:
RCV003924263
dbSNP Id:
rs554016001
ExAC:
17:39743087 G / A
gnomAD v2:
17-39743087-G-A
gnomAD v3:
17-41586835-G-A
gnomAD v4:
17-41586835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586835G>A , CM000679.2:g.41586835G>A | GRCh38 |
| NC_000017.10:g.39743087G>A , CM000679.1:g.39743087G>A | GRCh37 |
| NC_000017.9:g.36996613G>A | NCBI36 |
| NG_008624.1:g.5061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-1C>T MANE Select | ENSP00000167586.6:n.-1C>T | |
| ENST00000167586.6:c.-1C>T | ENSP00000167586.6:n.-1C>T | |
| NM_000526.4:c.-1C>T | NP_000517.2:n.-1C>T | |
| NM_000526.5:c.-1C>T MANE Select | NP_000517.3:n.-1C>T |