Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41479019C>G , CM000663.2:g.41479019C>G | GRCh38 |
| NC_000001.10:g.41944690C>G , CM000663.1:g.41944690C>G | GRCh37 |
| NC_000001.9:g.41717277C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001956.5:c.*390G>C MANE Select | NP_001947.1:n.*390G>C |
| ENST00000372587.5:c.*390G>C MANE Select | ENSP00000361668.4:n.*390G>C |
| NM_001302269.1:c.*390G>C | NP_001289198.1:n.*390G>C |
| NM_001302269.2:c.*390G>C | NP_001289198.1:n.*390G>C |
| NM_001956.4:c.*390G>C | NP_001947.1:n.*390G>C |
| NR_126098.1:n.918G>C | |
| NR_126098.2:n.918G>C | |
| ENST00000372587.4:c.*390G>C | ENSP00000361668.4:n.*390G>C |
| XM_017000512.1:c.*390G>C | XP_016856001.1:n.*390G>C |