Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312916T>C , CM000673.2:g.118312916T>C | GRCh38 |
| NC_000011.9:g.118183631T>C , CM000673.1:g.118183631T>C | GRCh37 |
| NC_000011.8:g.117688841T>C | NCBI36 |
| NG_007383.1:g.13337T>C , LRG_38:g.13337T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.352+50T>C MANE Select | ENSP00000354566.4:n.352+50T>C | |
| ENST00000361763.8:c.352+50T>C | ENSP00000354566.4:n.352+50T>C | |
| ENST00000526146.5:n.948T>C | ||
| ENST00000528435.5:n.905+50T>C | ||
| ENST00000528600.1:c.334+50T>C | ENSP00000433975.1:n.334+50T>C | |
| ENST00000529713.5:n.508T>C | ||
| ENST00000531913.1:n.723+50T>C | ||
| NM_000733.3:c.352+50T>C , LRG_38t1:c.352+50T>C | NP_000724.1:n.352+50T>C | |
| NM_000733.4:c.352+50T>C MANE Select | NP_000724.1:n.352+50T>C |