Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41479037G= , CM000663.2:g.41479037G= | GRCh38 |
| NC_000001.10:g.41944708G= , CM000663.1:g.41944708G= | GRCh37 |
| NC_000001.9:g.41717295G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372587.5:c.*372C= MANE Select | ENSP00000361668.4:n.*372C= | |
| ENST00000372587.4:c.*372C= | ENSP00000361668.4:n.*372C= | |
| NM_001302269.1:c.*372C= | NP_001289198.1:n.*372C= | |
| NM_001956.4:c.*372C= | NP_001947.1:n.*372C= | |
| NR_126098.1:n.900C= | ||
| XM_017000512.1:c.*372C= | XP_016856001.1:n.*372C= | |
| NM_001956.5:c.*372C= MANE Select | NP_001947.1:n.*372C= | |
| NM_001302269.2:c.*372C= | NP_001289198.1:n.*372C= | |
| NR_126098.2:n.900C= |