Linked Data
gnomAD v4:
8-117837005-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837005C>A , CM000670.2:g.117837005C>A | GRCh38 |
| NC_000008.10:g.118849244C>A , CM000670.1:g.118849244C>A | GRCh37 |
| NC_000008.9:g.118918425C>A | NCBI36 |
| NG_007455.2:g.279815G>T , LRG_493:g.279815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.523+103G>T | ||
| ENST00000378204.7:c.1056+103G>T MANE Select | ENSP00000367446.3:n.1056+103G>T | |
| ENST00000436216.2:c.424+103G>T | ||
| ENST00000378204.6:c.1056+103G>T | ENSP00000367446.2:n.1056+103G>T | |
| ENST00000436216.1:c.424+103G>T | ||
| ENST00000437196.1:c.74-1454G>T | ENSP00000407299.1:n.74-1454G>T | |
| NM_000127.2:c.1056+103G>T , LRG_493t1:c.1056+103G>T | NP_000118.2:n.1056+103G>T | |
| NM_000127.3:c.1056+103G>T MANE Select | NP_000118.2:n.1056+103G>T |