Linked Data
dbSNP Id:
rs747234888
ExAC:
19:49136682 C / T
gnomAD v2:
19-49136682-C-T
gnomAD v3:
19-48633425-C-T
gnomAD v4:
19-48633425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633425C>T , CM000681.2:g.48633425C>T | GRCh38 |
| NC_000019.9:g.49136682C>T , CM000681.1:g.49136682C>T | GRCh37 |
| NC_000019.8:g.53828494C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.762+19G>A MANE Select | ENSP00000222122.4:n.762+19G>A | |
| ENST00000222122.9:c.762+19G>A | ENSP00000222122.4:n.762+19G>A | |
| ENST00000593500.1:c.156+19G>A | ENSP00000471220.1:n.156+19G>A | |
| ENST00000594723.1:n.3024G>A | ||
| ENST00000599385.5:c.156+19G>A | ENSP00000469426.1:n.156+19G>A | |
| ENST00000601104.1:c.781G>A | ENSP00000469291.1:p.Gly261Arg | |
| NM_001352.4:c.762+19G>A | NP_001343.2:n.762+19G>A | |
| XM_017026388.2:c.333+19G>A | XP_016881877.1:n.333+19G>A | |
| XR_243907.4:n.1667+19G>A | ||
| NM_001352.5:c.762+19G>A MANE Select | NP_001343.2:n.762+19G>A |