Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122613712C= , CM000666.2:g.122613712C= | GRCh38 |
| NC_000004.11:g.123534867C= , CM000666.1:g.123534867C= | GRCh37 |
| NC_000004.10:g.123754317C= | NCBI36 |
| NG_031966.1:g.12346G= | |
| NG_031966.2:g.12355G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611104.2:c.361-784G= | ENSP00000477555.1:n.361-784G= | |
| ENST00000647784.1:n.213-784G= | ||
| ENST00000648588.1:c.361-784G= MANE Select | ENSP00000497915.1:n.361-784G= | |
| ENST00000264497.7:c.361-784G= | ENSP00000264497.3:n.361-784G= | |
| ENST00000611104.1:c.361-784G= | ENSP00000477555.1:n.361-784G= | |
| NM_001207006.2:c.361-784G= | NP_001193935.1:n.361-784G= | |
| NM_021803.3:c.361-784G= | NP_068575.1:n.361-784G= | |
| NM_021803.4:c.361-784G= MANE Select | NP_068575.1:n.361-784G= | |
| NM_001207006.3:c.361-784G= | NP_001193935.1:n.361-784G= |