Linked Data
gnomAD v4:
21-46001296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001296C>A , CM000683.2:g.46001296C>A | GRCh38 |
| NC_000021.8:g.47421210C>A , CM000683.1:g.47421210C>A | GRCh37 |
| NC_000021.7:g.46245638C>A | NCBI36 |
| NG_008674.1:g.24548C>A , LRG_475:g.24548C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.265C>A | ||
| ENST00000361866.8:c.1866C>A MANE Select | ENSP00000355180.3:p.Ser622Arg | |
| ENST00000361866.7:c.1866C>A | ENSP00000355180.3:p.Ser622Arg | |
| ENST00000463060.5:n.265C>A | ||
| ENST00000498614.5:n.100C>A | ||
| ENST00000612273.1:c.1860C>A | ENSP00000483630.1:p.Ser620Arg | |
| NM_001848.2:c.1866C>A , LRG_475t1:c.1866C>A | NP_001839.2:p.Ser622Arg | |
| NM_001848.3:c.1866C>A MANE Select | NP_001839.2:p.Ser622Arg |