Linked Data
dbSNP Id:
rs1183892031
gnomAD v2:
19-49206711-G-C
gnomAD v3:
19-48703454-G-C
gnomAD v4:
19-48703454-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703454G>C , CM000681.2:g.48703454G>C | GRCh38 |
| NC_000019.9:g.49206711G>C , CM000681.1:g.49206711G>C | GRCh37 |
| NC_000019.8:g.53898523G>C | NCBI36 |
| NG_007511.1:g.12484G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.498G>C MANE Select | ENSP00000387498.2:p.Gln166His | |
| ENST00000522966.2:c.498G>C | ENSP00000430227.2:p.Gln166His | |
| ENST00000391876.5:c.498G>C | ENSP00000375748.4:p.Gln166His | |
| ENST00000425340.2:c.498G>C | ENSP00000387498.2:p.Gln166His | |
| ENST00000522966.1:c.498G>C | ENSP00000430227.1:p.Gln166His | |
| NM_000511.5:c.498G>C | NP_000502.4:p.Gln166His | |
| NM_001097638.2:c.498G>C | NP_001091107.1:p.Gln166His | |
| NR_131188.1:n.395C>G | ||
| NM_000511.6:c.498G>C MANE Select | NP_000502.4:p.Gln166His | |
| NM_001097638.3:c.498G>C | NP_001091107.1:p.Gln166His |