Linked Data
dbSNP Id:
rs780000482
ExAC:
17:39742805 A / T
gnomAD v2:
17-39742805-A-T
gnomAD v4:
17-41586553-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586553A>T , CM000679.2:g.41586553A>T | GRCh38 |
| NC_000017.10:g.39742805A>T , CM000679.1:g.39742805A>T | GRCh37 |
| NC_000017.9:g.36996331A>T | NCBI36 |
| NG_008624.1:g.5343T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.282T>A MANE Select | ENSP00000167586.6:p.Ala94= | |
| ENST00000167586.6:c.282T>A | ENSP00000167586.6:p.Ala94= | |
| NM_000526.4:c.282T>A | NP_000517.2:p.Ala94= | |
| NM_000526.5:c.282T>A MANE Select | NP_000517.3:p.Ala94= |