Linked Data
gnomAD v4:
19-48633476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633476C>T , CM000681.2:g.48633476C>T | GRCh38 |
| NC_000019.9:g.49136733C>T , CM000681.1:g.49136733C>T | GRCh37 |
| NC_000019.8:g.53828545C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.730G>A MANE Select | ENSP00000222122.4:p.Ala244Thr | |
| ENST00000222122.9:c.730G>A | ENSP00000222122.4:p.Ala244Thr | |
| ENST00000593500.1:c.124G>A | ENSP00000471220.1:p.Ala42Thr | |
| ENST00000594723.1:n.2973G>A | ||
| ENST00000599385.5:c.124G>A | ENSP00000469426.1:p.Ala42Thr | |
| ENST00000601104.1:c.730G>A | ENSP00000469291.1:p.Ala244Thr | |
| NM_001352.4:c.730G>A | NP_001343.2:p.Ala244Thr | |
| XM_017026388.2:c.301G>A | XP_016881877.1:p.Ala101Thr | |
| XR_243907.4:n.1635G>A | ||
| NM_001352.5:c.730G>A MANE Select | NP_001343.2:p.Ala244Thr |