Linked Data
gnomAD v4:
16-67437026-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67437026C>A , CM000678.2:g.67437026C>A | GRCh38 |
| NC_000016.9:g.67470929C>A , CM000678.1:g.67470929C>A | GRCh37 |
| NC_000016.8:g.66028430C>A | NCBI36 |
| NG_011482.1:g.49161G>T | |
| NG_016549.1:g.10894C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.*23C>A MANE Select | ENSP00000316786.5:n.*23C>A | |
| ENST00000326152.5:c.*23C>A | ENSP00000316786.5:n.*23C>A | |
| NM_000196.3:c.*23C>A | NP_000187.3:n.*23C>A | |
| NM_000196.4:c.*23C>A MANE Select | NP_000187.3:n.*23C>A |