Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29622666C= , CM000685.2:g.29622666C= | GRCh38 |
| NC_000023.10:g.29640783C= , CM000685.1:g.29640783C= | GRCh37 |
| NC_000023.9:g.29550704C= | NCBI36 |
| NG_008292.1:g.1040103C= | |
| NG_008292.2:g.1040103C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.704-45764C= MANE Select | ENSP00000368278.1:n.704-45764C= | |
| ENST00000378993.5:c.704-45764C= | ENSP00000368278.1:n.704-45764C= | |
| NM_014271.3:c.704-45764C= | NP_055086.1:n.704-45764C= | |
| XM_005274441.1:c.704-45764C= | XP_005274498.1:n.704-45764C= | |
| XM_011545445.1:c.704-45764C= | XP_011543747.1:n.704-45764C= | |
| XM_017029240.1:c.704-45764C= | XP_016884729.1:n.704-45764C= | |
| XM_017029241.1:c.326-45764C= | XP_016884730.1:n.326-45764C= | |
| NM_014271.4:c.704-45764C= MANE Select | NP_055086.1:n.704-45764C= |