Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.122783162G= , CM000668.2:g.122783162G= | GRCh38 |
| NC_000006.11:g.123104307G= , CM000668.1:g.123104307G= | GRCh37 |
| NC_000006.10:g.123146006G= | NCBI36 |
| NG_050619.1:g.38962G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001446.5:c.349-555G= MANE Select | NP_001437.1:n.349-555G= |
| ENST00000368444.8:c.349-555G= MANE Select | ENSP00000357429.3:n.349-555G= |
| NM_001319041.1:c.*2651G= | NP_001305970.1:n.*2651G= |
| NM_001319041.2:c.*2651G= | NP_001305970.1:n.*2651G= |
| NM_001319042.1:c.337-555G= | NP_001305971.1:n.337-555G= |
| NM_001319042.2:c.337-555G= | NP_001305971.1:n.337-555G= |
| NM_001446.3:c.349-555G= | NP_001437.1:n.349-555G= |
| NM_001446.4:c.349-555G= | NP_001437.1:n.349-555G= |
| ENST00000368444.7:c.349-555G= | ENSP00000357429.3:n.349-555G= |