Linked Data
dbSNP Id:
rs775244532
ExAC:
17:41833014 C / T
gnomAD v2:
17-41833014-C-T
gnomAD v4:
17-43755646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755646C>T , CM000679.2:g.43755646C>T | GRCh38 |
| NC_000017.10:g.41833014C>T , CM000679.1:g.41833014C>T | GRCh37 |
| NC_000017.9:g.39188540C>T | NCBI36 |
| NG_008078.2:g.8143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.338G>A MANE Select | ENSP00000301691.1:p.Arg113His | |
| ENST00000301691.2:c.338G>A | ENSP00000301691.1:p.Arg113His | |
| NM_025237.2:c.338G>A | NP_079513.1:p.Arg113His | |
| NM_025237.3:c.338G>A MANE Select | NP_079513.1:p.Arg113His |