Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008452T= , CM000666.2:g.88008452T= | GRCh38 |
| NC_000004.11:g.88929604T= , CM000666.1:g.88929604T= | GRCh37 |
| NC_000004.10:g.89148628T= | NCBI36 |
| NG_008604.1:g.5785T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.595+124T= MANE Select | ENSP00000237596.2:n.595+124T= | |
| ENST00000237596.6:c.595+124T= | ENSP00000237596.2:n.595+124T= | |
| ENST00000506727.1:n.97+124T= | ||
| NM_000297.3:c.595+124T= | NP_000288.1:n.595+124T= | |
| XM_011532028.1:c.595+124T= | XP_011530330.1:n.595+124T= | |
| XR_244632.2:n.690+124T= | ||
| NR_156488.1:n.682+124T= | ||
| XM_011532028.2:c.595+124T= | XP_011530330.1:n.595+124T= | |
| NM_000297.4:c.595+124T= MANE Select | NP_000288.1:n.595+124T= | |
| NR_156488.2:n.694+124T= |