Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786205C= , CM000681.2:g.18786205C= | GRCh38 |
| NC_000019.9:g.18897015C= , CM000681.1:g.18897015C= | GRCh37 |
| NC_000019.8:g.18758015C= | NCBI36 |
| NG_007070.1:g.10100G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1307+34G= MANE Select | ENSP00000222271.2:n.1307+34G= | |
| ENST00000222271.6:c.1307+34G= | ENSP00000222271.2:n.1307+34G= | |
| ENST00000425807.1:c.1148+34G= | ENSP00000403792.1:n.1148+34G= | |
| ENST00000542601.6:c.1208+34G= | ENSP00000439156.2:n.1208+34G= | |
| ENST00000612179.1:n.557+34G= | ||
| NM_000095.2:c.1307+34G= | NP_000086.2:n.1307+34G= | |
| NM_000095.3:c.1307+34G= MANE Select | NP_000086.2:n.1307+34G= |