Linked Data
dbSNP Id:
rs12608544
ExAC:
19:49136651 G / A
gnomAD v2:
19-49136651-G-A
gnomAD v3:
19-48633394-G-A
gnomAD v4:
19-48633394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633394G>A , CM000681.2:g.48633394G>A | GRCh38 |
| NC_000019.9:g.49136651G>A , CM000681.1:g.49136651G>A | GRCh37 |
| NC_000019.8:g.53828463G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222122.10:c.762+50C>T MANE Select | ENSP00000222122.4:n.762+50C>T | |
| ENST00000222122.9:c.762+50C>T | ENSP00000222122.4:n.762+50C>T | |
| ENST00000593500.1:c.156+50C>T | ENSP00000471220.1:n.156+50C>T | |
| ENST00000594723.1:n.3055C>T | ||
| ENST00000599385.5:c.156+50C>T | ENSP00000469426.1:n.156+50C>T | |
| ENST00000601104.1:c.*23C>T | ENSP00000469291.1:n.*23C>T | |
| NM_001352.4:c.762+50C>T | NP_001343.2:n.762+50C>T | |
| XM_017026388.2:c.333+50C>T | XP_016881877.1:n.333+50C>T | |
| XR_243907.4:n.1667+50C>T | ||
| NM_001352.5:c.762+50C>T MANE Select | NP_001343.2:n.762+50C>T |