Linked Data
gnomAD v4:
19-55154249-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154249C>A , CM000681.2:g.55154249C>A | GRCh38 |
| NC_000019.9:g.55665617C>A , CM000681.1:g.55665617C>A | GRCh37 |
| NC_000019.8:g.60357429C>A | NCBI36 |
| NG_007866.2:g.8484G>T , LRG_432:g.8484G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-43G>T MANE Select | ENSP00000341838.5:n.373-43G>T | |
| ENST00000665070.1:c.406-43G>T | ENSP00000499482.1:n.406-43G>T | |
| ENST00000344887.9:c.373-43G>T | ENSP00000341838.5:n.373-43G>T | |
| ENST00000585806.5:n.372-43G>T | ||
| ENST00000586669.5:n.381-43G>T | ||
| ENST00000588882.1:c.298-43G>T | ENSP00000466729.1:n.298-43G>T | |
| ENST00000589864.1:n.158G>T | ||
| NM_000363.4:c.373-43G>T , LRG_432t1:c.373-43G>T | NP_000354.4:n.373-43G>T | |
| NM_000363.5:c.373-43G>T MANE Select | NP_000354.4:n.373-43G>T |