Linked Data
gnomAD v4:
3-81705707-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705714dup , CM000665.2:g.81705714dup | GRCh38 |
| NC_000003.11:g.81754865dup , CM000665.1:g.81754865dup | GRCh37 |
| NC_000003.10:g.81837555dup | NCBI36 |
| NG_011810.1:g.61093dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.144-95dup MANE Select | ENSP00000410833.2:n.144-95dup | |
| ENST00000429644.6:c.144-95dup | ENSP00000410833.2:n.144-95dup | |
| ENST00000489715.1:c.21-95dup | ENSP00000419638.1:n.21-95dup | |
| NM_000158.3:c.144-95dup | NP_000149.3:n.144-95dup | |
| NM_000158.4:c.144-95dup MANE Select | NP_000149.4:n.144-95dup |