Linked Data
gnomAD v4:
21-44456588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456588C>T , CM000683.2:g.44456588C>T | GRCh38 |
| NC_000021.8:g.45876471C>T , CM000683.1:g.45876471C>T | GRCh37 |
| NC_000021.7:g.44700899C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.-57C>T MANE Select | ENSP00000291592.4:n.-57C>T | |
| ENST00000291592.5:c.-57C>T | ENSP00000291592.4:n.-57C>T | |
| NM_030891.4:c.-57C>T | NP_112153.1:n.-57C>T | |
| NM_030891.5:c.-57C>T | NP_112153.1:n.-57C>T | |
| NM_030891.6:c.-57C>T MANE Select | NP_112153.1:n.-57C>T |