Linked Data
gnomAD v4:
9-5468355-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5468355T>C , CM000671.2:g.5468355T>C | GRCh38 |
| NC_000009.11:g.5468355T>C , CM000671.1:g.5468355T>C | GRCh37 |
| NC_000009.10:g.5458355T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381577.4:c.*493T>C MANE Select | ENSP00000370989.3:n.*493T>C | |
| ENST00000381573.8:c.*493T>C | ENSP00000370985.4:n.*493T>C | |
| ENST00000381577.3:c.*493T>C | ENSP00000370989.3:n.*493T>C | |
| NM_001267706.1:c.*493T>C | NP_001254635.1:n.*493T>C | |
| NM_014143.3:c.*493T>C | NP_054862.1:n.*493T>C | |
| NR_052005.1:n.1301T>C | ||
| NM_014143.4:c.*493T>C MANE Select | NP_054862.1:n.*493T>C | |
| NR_052005.2:n.1262T>C | ||
| NM_001267706.2:c.*493T>C | NP_001254635.1:n.*493T>C |