Linked Data
gnomAD v4:
5-119452456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452456C>T , CM000667.2:g.119452456C>T | GRCh38 |
| NC_000005.9:g.118788151C>T , CM000667.1:g.118788151C>T | GRCh37 |
| NC_000005.8:g.118816050C>T | NCBI36 |
| NG_008182.1:g.5004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256216.10:c.-120C>T | ENSP00000256216.6:n.-120C>T | |
| NM_000414.3:c.-120C>T | NP_000405.1:n.-120C>T | |
| NM_001199292.1:c.-120C>T | NP_001186221.1:n.-120C>T | |
| NM_001292027.1:c.-257C>T | NP_001278956.1:n.-257C>T |