Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399309G>A , CM000685.2:g.29399309G>A | GRCh38 |
| NC_000023.10:g.29417426G>A , CM000685.1:g.29417426G>A | GRCh37 |
| NC_000023.9:g.29327347G>A | NCBI36 |
| NG_008292.1:g.816746G>A | |
| NG_008292.2:g.816746G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378993.6:c.703+1G>A MANE Select | ENSP00000368278.1:n.703+1G>A | |
| ENST00000378993.5:c.703+1G>A | ENSP00000368278.1:n.703+1G>A | |
| NM_014271.3:c.703+1G>A | NP_055086.1:n.703+1G>A | |
| XM_005274441.1:c.703+1G>A | XP_005274498.1:n.703+1G>A | |
| XM_011545445.1:c.703+1G>A | XP_011543747.1:n.703+1G>A | |
| XM_017029240.1:c.703+1G>A | XP_016884729.1:n.703+1G>A | |
| XM_017029241.1:c.325+1G>A | XP_016884730.1:n.325+1G>A | |
| NM_014271.4:c.703+1G>A MANE Select | NP_055086.1:n.703+1G>A |