Linked Data
gnomAD v4:
3-81646517-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646517C>G , CM000665.2:g.81646517C>G | GRCh38 |
| NC_000003.11:g.81695668C>G , CM000665.1:g.81695668C>G | GRCh37 |
| NC_000003.10:g.81778358C>G | NCBI36 |
| NG_011810.1:g.120284G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.692-35G>C MANE Select | ENSP00000410833.2:n.692-35G>C | |
| ENST00000429644.6:c.692-35G>C | ENSP00000410833.2:n.692-35G>C | |
| ENST00000489715.1:c.569-35G>C | ENSP00000419638.1:n.569-35G>C | |
| ENST00000498468.1:n.220-13G>C | ||
| NM_000158.3:c.692-35G>C | NP_000149.3:n.692-35G>C | |
| NM_000158.4:c.692-35G>C MANE Select | NP_000149.4:n.692-35G>C |