Linked Data
ClinVar Variation Id:
329359
dbSNP Id:
rs775471043
ExAC:
19:41916592 G / C
gnomAD v2:
19-41916592-G-C
gnomAD v3:
19-41410687-G-C
gnomAD v4:
19-41410687-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410687G>C , CM000681.2:g.41410687G>C | GRCh38 |
| NC_000019.9:g.41916592G>C , CM000681.1:g.41916592G>C | GRCh37 |
| NC_000019.8:g.46608432G>C | NCBI36 |
| NG_013004.1:g.17899G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.159G>C MANE Select | ENSP00000269980.2:p.Gln53His | |
| ENST00000269980.6:c.159G>C | ENSP00000269980.2:p.Gln53His | |
| ENST00000457836.6:c.93G>C | ENSP00000416000.2:p.Gln31His | |
| ENST00000538423.5:n.179G>C | ||
| ENST00000540732.3:c.261G>C | ENSP00000443246.1:p.Gln87His | |
| ENST00000542943.5:c.159G>C | ENSP00000440345.1:p.Gln53His | |
| ENST00000595085.5:c.159G>C | ENSP00000471150.2:p.Gln53His | |
| ENST00000604424.1:n.401G>C | ||
| NM_000709.3:c.159G>C | NP_000700.1:p.Gln53His | |
| NM_001164783.1:c.159G>C | NP_001158255.1:p.Gln53His | |
| NM_000709.4:c.159G>C MANE Select | NP_000700.1:p.Gln53His | |
| NM_001164783.2:c.159G>C | NP_001158255.1:p.Gln53His |