Linked Data
dbSNP Id:
rs375665043
ExAC:
20:48522343 C / T
gnomAD v2:
20-48522343-C-T
gnomAD v3:
20-49905806-C-T
gnomAD v4:
20-49905806-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49905806C>T , CM000682.2:g.49905806C>T | GRCh38 |
| NC_000020.10:g.48522343C>T , CM000682.1:g.48522343C>T | GRCh37 |
| NC_000020.9:g.47955750C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289431.10:c.1376G>A MANE Select | ENSP00000289431.5:p.Arg459His | |
| ENST00000289431.9:c.1376G>A | ENSP00000289431.5:p.Arg459His | |
| ENST00000422556.1:c.1376G>A | ENSP00000416799.1:p.Arg459His | |
| NM_001135773.1:c.1376G>A | NP_001129245.1:p.Arg459His | |
| NM_006038.3:c.1376G>A | NP_006029.1:p.Arg459His | |
| XM_006723894.1:c.1376G>A | XP_006723957.1:p.Arg459His | |
| XM_011529116.1:c.1376G>A | XP_011527418.1:p.Arg459His | |
| NM_006038.4:c.1376G>A MANE Select | NP_006029.1:p.Arg459His | |
| NM_001135773.2:c.1376G>A | NP_001129245.1:p.Arg459His |