Linked Data
gnomAD v4:
3-191357105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191357105G>A , CM000665.2:g.191357105G>A | GRCh38 |
| NC_000003.11:g.191074894G>A , CM000665.1:g.191074894G>A | GRCh37 |
| NC_000003.10:g.192557588G>A | NCBI36 |
| NG_008994.1:g.33021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.67G>A MANE Select | ENSP00000376249.4:p.Val23Ile | |
| ENST00000392456.4:c.67G>A | ENSP00000376250.4:p.Val23Ile | |
| ENST00000392455.7:c.67G>A | ENSP00000376249.3:p.Val23Ile | |
| ENST00000392456.3:c.67G>A | ENSP00000376250.3:p.Val23Ile | |
| NM_174908.3:c.67G>A | NP_777568.1:p.Val23Ile | |
| NM_178335.2:c.67G>A | NP_848018.1:p.Val23Ile | |
| XM_011512460.1:c.67G>A | XP_011510762.1:p.Val23Ile | |
| NM_178335.3:c.67G>A MANE Select | NP_848018.1:p.Val23Ile | |
| NM_174908.4:c.67G>A | NP_777568.1:p.Val23Ile |