Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643746C>A , CM000670.2:g.86643746C>A | GRCh38 |
| NC_000008.10:g.87655974C>A , CM000670.1:g.87655974C>A | GRCh37 |
| NC_000008.9:g.87725090C>A | NCBI36 |
| NG_016980.1:g.104930G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1178+5G>T MANE Select | ENSP00000316605.5:n.1178+5G>T | |
| ENST00000681546.1:n.998+5G>T | ||
| ENST00000681746.1:c.1178+5G>T | ENSP00000505959.1:n.1178+5G>T | |
| ENST00000320005.5:c.1178+5G>T | ENSP00000316605.5:n.1178+5G>T | |
| NM_019098.4:c.1178+5G>T | NP_061971.3:n.1178+5G>T | |
| XM_011517138.1:c.764+5G>T | XP_011515440.1:n.764+5G>T | |
| XM_011517138.2:c.764+5G>T | XP_011515440.1:n.764+5G>T | |
| NM_019098.5:c.1178+5G>T MANE Select | NP_061971.3:n.1178+5G>T |