Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110010C= , CM000670.2:g.118110010C= | GRCh38 |
| NC_000008.10:g.119122249C= , CM000670.1:g.119122249C= | GRCh37 |
| NC_000008.9:g.119191430C= | NCBI36 |
| NG_007455.2:g.6810G= , LRG_493:g.6810G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.962+75G= MANE Select | ENSP00000367446.3:n.962+75G= | |
| ENST00000436216.2:c.330+75G= | ||
| ENST00000378204.6:c.962+75G= | ENSP00000367446.2:n.962+75G= | |
| ENST00000436216.1:c.330+75G= | ||
| ENST00000437196.1:c.73+964G= | ENSP00000407299.1:n.73+964G= | |
| NM_000127.2:c.962+75G= , LRG_493t1:c.962+75G= | NP_000118.2:n.962+75G= | |
| NM_000127.3:c.962+75G= MANE Select | NP_000118.2:n.962+75G= |