Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689203A= , CM000669.2:g.107689203A= | GRCh38 |
| NC_000007.13:g.107329648A= , CM000669.1:g.107329648A= | GRCh37 |
| NC_000007.12:g.107116884A= | NCBI36 |
| NG_008489.1:g.33569A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000441.2:c.1149+3A= MANE Select | NP_000432.1:n.1149+3A= |
| ENST00000644269.2:c.1149+3A= MANE Select | ENSP00000494017.1:n.1149+3A= |
| NM_000441.1:c.1149+3A= | NP_000432.1:n.1149+3A= |
| ENST00000265715.7:c.1149+3A= | ENSP00000265715.3:n.1149+3A= |
| XM_005250425.1:c.1149+3A= | XP_005250482.1:n.1149+3A= |
| XM_005250425.2:c.1149+3A= | XP_005250482.1:n.1149+3A= |
| XM_006716025.2:c.1149+3A= | XP_006716088.1:n.1149+3A= |
| XM_006716025.3:c.1149+3A= | XP_006716088.1:n.1149+3A= |
| XM_017012318.1:c.1149+3A= | XP_016867807.1:n.1149+3A= |