Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37804176A= , CM000685.2:g.37804176A= | GRCh38 |
| NC_000023.10:g.37663429A= , CM000685.1:g.37663429A= | GRCh37 |
| NC_000023.9:g.37548373A= | NCBI36 |
| NG_009065.1:g.29160A= , LRG_53:g.29160A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*660+46A= | ENSP00000512461.1:n.*660+46A= | |
| ENST00000696171.1:c.1055+46A= | ENSP00000512462.1:n.1055+46A= | |
| ENST00000378588.5:c.1151+46A= MANE Select | ENSP00000367851.4:n.1151+46A= | |
| ENST00000378588.4:c.1151+46A= | ENSP00000367851.4:n.1151+46A= | |
| ENST00000465127.1:c.171+378176A= | ENSP00000417050.1:n.171+378176A= | |
| NM_000397.3:c.1151+46A= , LRG_53t1:c.1151+46A= | NP_000388.2:n.1151+46A= | |
| XM_011543890.1:c.845+46A= | XP_011542192.1:n.845+46A= | |
| NM_000397.4:c.1151+46A= MANE Select | NP_000388.2:n.1151+46A= |