Linked Data
gnomAD v4:
19-18389111-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389111C>G , CM000681.2:g.18389111C>G | GRCh38 |
| NC_000019.9:g.18499921C>G , CM000681.1:g.18499921C>G | GRCh37 |
| NC_000019.8:g.18360921C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252809.3:c.*176C>G MANE Select | ENSP00000252809.3:n.*176C>G | |
| NM_004864.2:c.*176C>G | NP_004855.2:n.*176C>G | |
| NM_004864.3:c.*176C>G | NP_004855.2:n.*176C>G | |
| XM_024451789.1:c.*176C>G | XP_024307557.1:n.*176C>G | |
| NM_004864.4:c.*176C>G MANE Select | NP_004855.2:n.*176C>G |