Linked Data
gnomAD v4:
21-46001461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001461G>A , CM000683.2:g.46001461G>A | GRCh38 |
| NC_000021.8:g.47421375G>A , CM000683.1:g.47421375G>A | GRCh37 |
| NC_000021.7:g.46245803G>A | NCBI36 |
| NG_008674.1:g.24713G>A , LRG_475:g.24713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.355+75G>A | ||
| ENST00000612273.2:c.82+75G>A | ||
| ENST00000682634.1:c.82+75G>A | ||
| ENST00000361866.8:c.1956+75G>A MANE Select | ENSP00000355180.3:n.1956+75G>A | |
| ENST00000361866.7:c.1956+75G>A | ENSP00000355180.3:n.1956+75G>A | |
| ENST00000463060.5:n.355+75G>A | ||
| ENST00000498614.5:n.190+75G>A | ||
| ENST00000612273.1:c.1950+75G>A | ENSP00000483630.1:n.1950+75G>A | |
| NM_001848.2:c.1956+75G>A , LRG_475t1:c.1956+75G>A | NP_001839.2:n.1956+75G>A | |
| NM_001848.3:c.1956+75G>A MANE Select | NP_001839.2:n.1956+75G>A |