Linked Data
gnomAD v4:
3-81705431-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705431T>C , CM000665.2:g.81705431T>C | GRCh38 |
| NC_000003.11:g.81754582T>C , CM000665.1:g.81754582T>C | GRCh37 |
| NC_000003.10:g.81837272T>C | NCBI36 |
| NG_011810.1:g.61370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.313+13A>G MANE Select | ENSP00000410833.2:n.313+13A>G | |
| ENST00000429644.6:c.313+13A>G | ENSP00000410833.2:n.313+13A>G | |
| ENST00000489715.1:c.190+13A>G | ENSP00000419638.1:n.190+13A>G | |
| NM_000158.3:c.313+13A>G | NP_000149.3:n.313+13A>G | |
| NM_000158.4:c.313+13A>G MANE Select | NP_000149.4:n.313+13A>G |