Linked Data
dbSNP Id:
rs769217377
ExAC:
17:39743112 C / T
gnomAD v2:
17-39743112-C-T
gnomAD v3:
17-41586860-C-T
gnomAD v4:
17-41586860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586860C>T , CM000679.2:g.41586860C>T | GRCh38 |
| NC_000017.10:g.39743112C>T , CM000679.1:g.39743112C>T | GRCh37 |
| NC_000017.9:g.36996638C>T | NCBI36 |
| NG_008624.1:g.5036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-26G>A MANE Select | ENSP00000167586.6:n.-26G>A | |
| ENST00000167586.6:c.-26G>A | ENSP00000167586.6:n.-26G>A | |
| NM_000526.4:c.-26G>A | NP_000517.2:n.-26G>A | |
| NM_000526.5:c.-26G>A MANE Select | NP_000517.3:n.-26G>A |