Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15878230C>G , CM000681.2:g.15878230C>G | GRCh38 |
| NG_007971.2:g.24845G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001082.5:c.*541G>C MANE Select | NP_001073.3:n.*541G>C |
| ENST00000221700.11:c.*541G>C MANE Select | ENSP00000221700.3:n.*541G>C |
| NM_001082.4:c.*541G>C | NP_001073.3:n.*541G>C |
| ENST00000221700.10:c.*541G>C | ENSP00000221700.3:n.*541G>C |
| ENST00000392846.7:n.2047G>C |