Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081948A= , CM000666.2:g.55081948A= | GRCh38 |
| NC_000004.11:g.55948115A= , CM000666.1:g.55948115A= | GRCh37 |
| NC_000004.10:g.55642872A= | NCBI36 |
| NG_012004.1:g.48648T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3848+8T= MANE Select | ENSP00000263923.4:n.3848+8T= | |
| ENST00000647068.1:n.3861+8T= | ||
| ENST00000263923.4:c.3848+8T= | ENSP00000263923.4:n.3848+8T= | |
| NM_002253.2:c.3848+8T= | NP_002244.1:n.3848+8T= | |
| NM_002253.3:c.3848+8T= | NP_002244.1:n.3848+8T= | |
| NM_002253.4:c.3848+8T= MANE Select | NP_002244.1:n.3848+8T= |