Linked Data
dbSNP Id:
rs1391399171
gnomAD v2:
19-10226218-C-T
gnomAD v3:
19-10115542-C-T
gnomAD v4:
19-10115542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115542C>T , CM000681.2:g.10115542C>T | GRCh38 |
| NC_000019.9:g.10226218C>T , CM000681.1:g.10226218C>T | GRCh37 |
| NC_000019.8:g.10087218C>T | NCBI36 |
| NG_047007.1:g.9022C>T | |
| NG_051197.1:g.9383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.884G>A MANE Select | ENSP00000253108.3:p.Arg295His | |
| ENST00000253108.8:c.884G>A | ENSP00000253108.3:p.Arg295His | |
| ENST00000589454.5:c.860G>A | ENSP00000466860.1:p.Arg287His | |
| ENST00000590158.1:n.903G>A | ||
| ENST00000593054.5:c.278G>A | ENSP00000467187.1:p.Arg93His | |
| NM_003755.3:c.884G>A | NP_003746.2:p.Arg295His | |
| NM_003755.4:c.884G>A | NP_003746.2:p.Arg295His | |
| NM_003755.5:c.884G>A MANE Select | NP_003746.2:p.Arg295His |