Linked Data
gnomAD v4:
3-81649119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81649119A>G , CM000665.2:g.81649119A>G | GRCh38 |
| NC_000003.11:g.81698270A>G , CM000665.1:g.81698270A>G | GRCh37 |
| NC_000003.10:g.81780960A>G | NCBI36 |
| NG_011810.1:g.117682T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.556-128T>C MANE Select | ENSP00000410833.2:n.556-128T>C | |
| ENST00000429644.6:c.556-128T>C | ENSP00000410833.2:n.556-128T>C | |
| ENST00000486920.1:n.552-128T>C | ||
| ENST00000489715.1:c.433-128T>C | ENSP00000419638.1:n.433-128T>C | |
| ENST00000498468.1:n.84-128T>C | ||
| NM_000158.3:c.556-128T>C | NP_000149.3:n.556-128T>C | |
| NM_000158.4:c.556-128T>C MANE Select | NP_000149.4:n.556-128T>C |