Linked Data
gnomAD v4:
9-5468216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5468216C>T , CM000671.2:g.5468216C>T | GRCh38 |
| NC_000009.11:g.5468216C>T , CM000671.1:g.5468216C>T | GRCh37 |
| NC_000009.10:g.5458216C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381577.4:c.*354C>T MANE Select | ENSP00000370989.3:n.*354C>T | |
| ENST00000381573.8:c.*354C>T | ENSP00000370985.4:n.*354C>T | |
| ENST00000381577.3:c.*354C>T | ENSP00000370989.3:n.*354C>T | |
| NM_001267706.1:c.*354C>T | NP_001254635.1:n.*354C>T | |
| NM_014143.3:c.*354C>T | NP_054862.1:n.*354C>T | |
| NR_052005.1:n.1162C>T | ||
| NM_014143.4:c.*354C>T MANE Select | NP_054862.1:n.*354C>T | |
| NR_052005.2:n.1123C>T | ||
| NM_001267706.2:c.*354C>T | NP_001254635.1:n.*354C>T |