Linked Data
dbSNP Id:
rs779516281
ExAC:
5:149357643 C / A
gnomAD v2:
5-149357643-C-A
gnomAD v4:
5-149978080-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978080C>A , CM000667.2:g.149978080C>A | GRCh38 |
| NC_000005.9:g.149357643C>A , CM000667.1:g.149357643C>A | GRCh37 |
| NC_000005.8:g.149337836C>A | NCBI36 |
| NG_007147.2:g.19198C>A , LRG_684:g.19198C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.660C>A | ||
| ENST00000286298.5:c.428C>A MANE Select | ENSP00000286298.4:p.Thr143Lys | |
| ENST00000286298.4:c.428C>A | ENSP00000286298.4:p.Thr143Lys | |
| ENST00000503336.1:c.101C>A | ENSP00000426053.1:p.Thr34Lys | |
| NM_000112.3:c.428C>A , LRG_684t1:c.428C>A | NP_000103.2:p.Thr143Lys | |
| XM_017009191.2:c.428C>A | XP_016864680.1:p.Thr143Lys | |
| NM_000112.4:c.428C>A MANE Select | NP_000103.2:p.Thr143Lys |