Linked Data
dbSNP Id:
rs2569527
gnomAD v3:
19-50908380-T-G
gnomAD v4:
19-50908380-T-G
MyVariant Identifiers:
chr19:g.50908380T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908380T>G , CM000681.2:g.50908380T>G | GRCh38 |
| NG_012154.2:g.7359A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.591A>C MANE Select | ENSP00000326159.1:p.Gln197His | |
| ENST00000324041.5:c.591A>C | ENSP00000326159.1:p.Gln197His | |
| ENST00000431178.2:c.328+199A>C | ENSP00000399448.2:n.328+199A>C | |
| ENST00000593885.1:c.*86A>C | ENSP00000469769.1:n.*86A>C | |
| ENST00000596876.1:n.593A>C | ||
| ENST00000598305.5:c.*86A>C | ENSP00000469963.1:n.*86A>C | |
| ENST00000599865.5:n.527A>C | ||
| ENST00000602148.1:c.603A>C | ENSP00000472091.1:n.603A>C | |
| NM_001302961.1:c.306A>C | NP_001289890.1:p.Gln102His | |
| NM_004917.4:c.591A>C | NP_004908.4:p.Gln197His | |
| NR_126566.1:n.580A>C | ||
| XM_005259441.3:c.306A>C | XP_005259498.2:p.Gln102His | |
| XM_011527546.1:c.475+199A>C | XP_011525848.1:n.475+199A>C | |
| XM_011527547.1:c.444A>C | XP_011525849.1:p.Gln148His | |
| XM_005259441.4:c.306A>C | XP_005259498.2:p.Gln102His | |
| XM_011527545.3:c.*86A>C | XP_011525847.1:n.*86A>C | |
| XM_011527546.2:c.475+199A>C | XP_011525848.1:n.475+199A>C | |
| NM_001302961.2:c.306A>C | NP_001289890.1:p.Gln102His | |
| NR_126566.2:n.580A>C | ||
| NM_004917.5:c.591A>C MANE Select | NP_004908.4:p.Gln197His |