Linked Data
gnomAD v4:
20-46010830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010830C>T , CM000682.2:g.46010830C>T | GRCh38 |
| NC_000020.10:g.44639469C>T , CM000682.1:g.44639469C>T | GRCh37 |
| NC_000020.9:g.44072876C>T | NCBI36 |
| NG_011468.1:g.6923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.521-92C>T MANE Select | ENSP00000361405.3:n.521-92C>T | |
| NM_004994.2:c.521-92C>T | NP_004985.2:n.521-92C>T | |
| NM_004994.3:c.521-92C>T MANE Select | NP_004985.2:n.521-92C>T |