Linked Data
gnomAD v4:
1-115700645-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115700645G>T , CM000663.2:g.115700645G>T | GRCh38 |
| NC_000001.10:g.116243266G>T , CM000663.1:g.116243266G>T | GRCh37 |
| NC_000001.9:g.116044789G>T | NCBI36 |
| NG_008802.1:g.73161C>A , LRG_404:g.73161C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*1168C>A | ENSP00000518226.1:n.*1168C>A | |
| ENST00000261448.6:c.*596C>A MANE Select | ENSP00000261448.5:n.*596C>A | |
| ENST00000261448.5:c.*596C>A | ENSP00000261448.5:n.*596C>A | |
| NM_001232.3:c.*596C>A , LRG_404t1:c.*596C>A | NP_001223.2:n.*596C>A | |
| NM_001232.4:c.*596C>A MANE Select | NP_001223.2:n.*596C>A |