Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55084031A= , CM000666.2:g.55084031A= | GRCh38 |
| NC_000004.11:g.55950198A= , CM000666.1:g.55950198A= | GRCh37 |
| NC_000004.10:g.55644955A= | NCBI36 |
| NG_012004.1:g.46565T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.3663-1396T= MANE Select | NP_002244.1:n.3663-1396T= |
| ENST00000263923.5:c.3663-1396T= MANE Select | ENSP00000263923.4:n.3663-1396T= |
| NM_002253.2:c.3663-1396T= | NP_002244.1:n.3663-1396T= |
| NM_002253.3:c.3663-1396T= | NP_002244.1:n.3663-1396T= |
| ENST00000263923.4:c.3663-1396T= | ENSP00000263923.4:n.3663-1396T= |
| ENST00000647068.1:n.3676-1396T= |