Linked Data
gnomAD v4:
11-118312914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312914C>T , CM000673.2:g.118312914C>T | GRCh38 |
| NC_000011.9:g.118183629C>T , CM000673.1:g.118183629C>T | GRCh37 |
| NC_000011.8:g.117688839C>T | NCBI36 |
| NG_007383.1:g.13335C>T , LRG_38:g.13335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.352+48C>T MANE Select | ENSP00000354566.4:n.352+48C>T | |
| ENST00000361763.8:c.352+48C>T | ENSP00000354566.4:n.352+48C>T | |
| ENST00000526146.5:n.946C>T | ||
| ENST00000528435.5:n.905+48C>T | ||
| ENST00000528600.1:c.334+48C>T | ENSP00000433975.1:n.334+48C>T | |
| ENST00000529713.5:n.506C>T | ||
| ENST00000531913.1:n.723+48C>T | ||
| NM_000733.3:c.352+48C>T , LRG_38t1:c.352+48C>T | NP_000724.1:n.352+48C>T | |
| NM_000733.4:c.352+48C>T MANE Select | NP_000724.1:n.352+48C>T |