Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399326T>C , CM000685.2:g.29399326T>C | GRCh38 |
| NC_000023.10:g.29417443T>C , CM000685.1:g.29417443T>C | GRCh37 |
| NC_000023.9:g.29327364T>C | NCBI36 |
| NG_008292.1:g.816763T>C | |
| NG_008292.2:g.816763T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.703+18T>C MANE Select | ENSP00000368278.1:n.703+18T>C | |
| ENST00000378993.5:c.703+18T>C | ENSP00000368278.1:n.703+18T>C | |
| NM_014271.3:c.703+18T>C | NP_055086.1:n.703+18T>C | |
| XM_005274441.1:c.703+18T>C | XP_005274498.1:n.703+18T>C | |
| XM_011545445.1:c.703+18T>C | XP_011543747.1:n.703+18T>C | |
| XM_017029240.1:c.703+18T>C | XP_016884729.1:n.703+18T>C | |
| XM_017029241.1:c.325+18T>C | XP_016884730.1:n.325+18T>C | |
| NM_014271.4:c.703+18T>C MANE Select | NP_055086.1:n.703+18T>C |