Linked Data
gnomAD v4:
13-28659171-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659171C>T , CM000675.2:g.28659171C>T | GRCh38 |
| NC_000013.10:g.29233308C>T , CM000675.1:g.29233308C>T | GRCh37 |
| NC_000013.9:g.28131308C>T | NCBI36 |
| NG_027550.1:g.5168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-99C>T | ENSP00000513414.1:n.-99C>T | |
| ENST00000697717.1:c.-14C>T | ENSP00000513415.1:n.-14C>T | |
| ENST00000697718.1:c.-14C>T | ENSP00000513416.1:n.-14C>T | |
| ENST00000380842.5:c.-14C>T MANE Select | ENSP00000370222.4:n.-14C>T | |
| ENST00000380842.4:c.-14C>T | ENSP00000370222.4:n.-14C>T | |
| ENST00000460403.1:n.68C>T | ||
| NM_015932.5:c.-14C>T | NP_057016.1:n.-14C>T | |
| NM_015932.6:c.-14C>T MANE Select | NP_057016.1:n.-14C>T |