Linked Data
ClinVar Variation Id:
775111
dbSNP Id:
rs182290035
ExAC:
17:59482065 C / A
gnomAD v2:
17-59482065-C-A
gnomAD v3:
17-61404704-C-A
gnomAD v4:
17-61404704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61404704C>A , CM000679.2:g.61404704C>A | GRCh38 |
| NC_000017.10:g.59482065C>A , CM000679.1:g.59482065C>A | GRCh37 |
| NC_000017.9:g.56836847C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240328.4:c.986C>A MANE Select | ENSP00000240328.3:p.Pro329His | |
| ENST00000240328.3:c.986C>A | ENSP00000240328.3:p.Pro329His | |
| ENST00000419047.5:c.*523C>A | ENSP00000404781.1:n.*523C>A | |
| ENST00000477081.1:n.798C>A | ||
| NM_005994.3:c.986C>A | NP_005985.3:p.Pro329His | |
| XM_011525158.1:c.986C>A | XP_011523460.1:p.Pro329His | |
| XM_011525159.1:c.308C>A | XP_011523461.1:p.Pro103His | |
| NM_005994.4:c.986C>A MANE Select | NP_005985.3:p.Pro329His |