Linked Data
gnomAD v4:
8-118111316-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111316G>T , CM000670.2:g.118111316G>T | GRCh38 |
| NC_000008.10:g.119123555G>T , CM000670.1:g.119123555G>T | GRCh37 |
| NC_000008.9:g.119192736G>T | NCBI36 |
| NG_007455.2:g.5504C>A , LRG_493:g.5504C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-270C>A MANE Select | ENSP00000367446.3:n.-270C>A | |
| ENST00000378204.6:c.-270C>A | ENSP00000367446.2:n.-270C>A | |
| ENST00000437196.1:c.-270C>A | ENSP00000407299.1:n.-270C>A | |
| NM_000127.2:c.-270C>A , LRG_493t1:c.-270C>A | NP_000118.2:n.-270C>A | |
| NM_000127.3:c.-270C>A MANE Select | NP_000118.2:n.-270C>A |