Linked Data
gnomAD v4:
13-20192671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20192671G>A , CM000675.2:g.20192671G>A | GRCh38 |
| NC_000013.10:g.20766810G>A , CM000675.1:g.20766810G>A | GRCh37 |
| NC_000013.9:g.19664810G>A | NCBI36 |
| NG_008358.1:g.5305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382848.5:c.-23+112C>T MANE Select | ENSP00000372299.4:n.-23+112C>T | |
| ENST00000382848.4:c.-23+112C>T | ENSP00000372299.4:n.-23+112C>T | |
| NM_004004.5:c.-23+112C>T | NP_003995.2:n.-23+112C>T | |
| NM_004004.6:c.-23+112C>T MANE Select | NP_003995.2:n.-23+112C>T |