Linked Data
dbSNP Id:
rs59410695
ExAC:
15:75042492 G / A
gnomAD v2:
15-75042492-G-A
gnomAD v3:
15-74750151-G-A
gnomAD v4:
15-74750151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750151G>A , CM000677.2:g.74750151G>A | GRCh38 |
| NC_000015.9:g.75042492G>A , CM000677.1:g.75042492G>A | GRCh37 |
| NC_000015.8:g.72829545G>A | NCBI36 |
| NG_008431.1:g.32610G>A | |
| NG_008431.2:g.32610G>A | |
| NG_061543.1:g.6307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.413G>A MANE Select | ENSP00000342007.4:p.Arg138His | |
| ENST00000343932.4:c.413G>A | ENSP00000342007.4:p.Arg138His | |
| NM_000761.4:c.413G>A | NP_000752.2:p.Arg138His | |
| NM_000761.5:c.413G>A MANE Select | NP_000752.2:p.Arg138His |