Linked Data
dbSNP Id:
rs541732157
ExAC:
19:49136719 C / G
gnomAD v2:
19-49136719-C-G
gnomAD v3:
19-48633462-C-G
gnomAD v4:
19-48633462-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633462C>G , CM000681.2:g.48633462C>G | GRCh38 |
| NC_000019.9:g.49136719C>G , CM000681.1:g.49136719C>G | GRCh37 |
| NC_000019.8:g.53828531C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.744G>C MANE Select | ENSP00000222122.4:p.Gln248His | |
| ENST00000222122.9:c.744G>C | ENSP00000222122.4:p.Gln248His | |
| ENST00000593500.1:c.138G>C | ENSP00000471220.1:p.Gln46His | |
| ENST00000594723.1:n.2987G>C | ||
| ENST00000599385.5:c.138G>C | ENSP00000469426.1:p.Gln46His | |
| ENST00000601104.1:c.744G>C | ENSP00000469291.1:p.Gln248His | |
| NM_001352.4:c.744G>C | NP_001343.2:p.Gln248His | |
| XM_017026388.2:c.315G>C | XP_016881877.1:p.Gln105His | |
| XR_243907.4:n.1649G>C | ||
| NM_001352.5:c.744G>C MANE Select | NP_001343.2:p.Gln248His |