Linked Data
ClinVar Variation Id:
214321
dbSNP Id:
rs768669208
ExAC:
19:44015618 C / T
gnomAD v2:
19-44015618-C-T
gnomAD v3:
19-43511466-C-T
gnomAD v4:
19-43511466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43511466C>T , CM000681.2:g.43511466C>T | GRCh38 |
| NC_000019.9:g.44015618C>T , CM000681.1:g.44015618C>T | GRCh37 |
| NC_000019.8:g.48707458C>T | NCBI36 |
| NG_008141.1:g.20779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.476G>A MANE Select | ENSP00000292147.1:p.Arg159His | |
| ENST00000292147.6:c.476G>A | ENSP00000292147.1:p.Arg159His | |
| ENST00000594342.5:c.*39G>A | ENSP00000469652.1:n.*39G>A | |
| ENST00000598330.1:c.*39G>A | ENSP00000469219.1:n.*39G>A | |
| ENST00000600651.5:c.476G>A | ENSP00000469037.1:p.Arg159His | |
| NM_014297.3:c.476G>A | NP_055112.2:p.Arg159His | |
| XM_005258687.2:c.395G>A | XP_005258744.1:p.Arg132His | |
| XM_005258688.2:c.107G>A | XP_005258745.1:p.Arg36His | |
| XM_011526685.1:c.227-2602G>A | XP_011524987.1:n.227-2602G>A | |
| NM_001320867.1:c.443G>A | NP_001307796.1:p.Arg148His | |
| NM_001320868.1:c.107G>A | NP_001307797.1:p.Arg36His | |
| NM_001320869.1:c.182G>A | NP_001307798.1:p.Arg61His | |
| NM_014297.4:c.476G>A | NP_055112.2:p.Arg159His | |
| XM_005258687.4:c.395G>A | XP_005258744.1:p.Arg132His | |
| NM_014297.5:c.476G>A MANE Select | NP_055112.2:p.Arg159His | |
| NM_001320867.2:c.443G>A | NP_001307796.1:p.Arg148His | |
| NM_001320868.2:c.107G>A | NP_001307797.1:p.Arg36His | |
| NM_001320869.2:c.182G>A | NP_001307798.1:p.Arg61His |