Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55112903C= , CM000666.2:g.55112903C= | GRCh38 |
| NC_000004.11:g.55979070C= , CM000666.1:g.55979070C= | GRCh37 |
| NC_000004.10:g.55673827C= | NCBI36 |
| NG_012004.1:g.17693G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.976+401G= MANE Select | NP_002244.1:n.976+401G= |
| ENST00000263923.5:c.976+401G= MANE Select | ENSP00000263923.4:n.976+401G= |
| NM_002253.2:c.976+401G= | NP_002244.1:n.976+401G= |
| NM_002253.3:c.976+401G= | NP_002244.1:n.976+401G= |
| ENST00000263923.4:c.976+401G= | ENSP00000263923.4:n.976+401G= |
| ENST00000512566.1:n.976+401G= | |
| ENST00000647068.1:n.989+401G= |