Linked Data
dbSNP Id:
rs770399148
ExAC:
19:49136716 C / T
gnomAD v2:
19-49136716-C-T
gnomAD v3:
19-48633459-C-T
gnomAD v4:
19-48633459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633459C>T , CM000681.2:g.48633459C>T | GRCh38 |
| NC_000019.9:g.49136716C>T , CM000681.1:g.49136716C>T | GRCh37 |
| NC_000019.8:g.53828528C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.747G>A MANE Select | ENSP00000222122.4:p.Val249= | |
| ENST00000222122.9:c.747G>A | ENSP00000222122.4:p.Val249= | |
| ENST00000593500.1:c.141G>A | ENSP00000471220.1:p.Val47= | |
| ENST00000594723.1:n.2990G>A | ||
| ENST00000599385.5:c.141G>A | ENSP00000469426.1:p.Val47= | |
| ENST00000601104.1:c.747G>A | ENSP00000469291.1:p.Val249= | |
| NM_001352.4:c.747G>A | NP_001343.2:p.Val249= | |
| XM_017026388.2:c.318G>A | XP_016881877.1:p.Val106= | |
| XR_243907.4:n.1652G>A | ||
| NM_001352.5:c.747G>A MANE Select | NP_001343.2:p.Val249= |