Linked Data
gnomAD v4:
19-18389009-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389009C>A , CM000681.2:g.18389009C>A | GRCh38 |
| NC_000019.9:g.18499819C>A , CM000681.1:g.18499819C>A | GRCh37 |
| NC_000019.8:g.18360819C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*74C>A MANE Select | ENSP00000252809.3:n.*74C>A | |
| NM_004864.2:c.*74C>A | NP_004855.2:n.*74C>A | |
| NM_004864.3:c.*74C>A | NP_004855.2:n.*74C>A | |
| XM_024451789.1:c.*74C>A | XP_024307557.1:n.*74C>A | |
| NM_004864.4:c.*74C>A MANE Select | NP_004855.2:n.*74C>A |