Linked Data
ClinVar Variation Id:
93376
dbSNP Id:
rs200137189
ExAC:
19:41928570 G / A
gnomAD v2:
19-41928570-G-A
gnomAD v3:
19-41422665-G-A
gnomAD v4:
19-41422665-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422665G>A , CM000681.2:g.41422665G>A | GRCh38 |
| NC_000019.9:g.41928570G>A , CM000681.1:g.41928570G>A | GRCh37 |
| NC_000019.8:g.46620410G>A | NCBI36 |
| NG_013004.1:g.29877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.890G>A MANE Select | ENSP00000269980.2:p.Arg297His | |
| ENST00000269980.6:c.890G>A | ENSP00000269980.2:p.Arg297His | |
| ENST00000457836.6:c.824G>A | ENSP00000416000.2:p.Arg275His | |
| ENST00000535632.5:n.519G>A | ||
| ENST00000540732.3:c.992G>A | ENSP00000443246.1:p.Arg331His | |
| ENST00000542943.5:c.803G>A | ENSP00000440345.1:p.Arg268His | |
| ENST00000545787.1:n.518G>A | ||
| ENST00000595085.5:c.890G>A | ENSP00000471150.2:p.Arg297His | |
| NM_000709.3:c.890G>A | NP_000700.1:p.Arg297His | |
| NM_001164783.1:c.887G>A | NP_001158255.1:p.Arg296His | |
| NM_000709.4:c.890G>A MANE Select | NP_000700.1:p.Arg297His | |
| NM_001164783.2:c.887G>A | NP_001158255.1:p.Arg296His |