Linked Data
gnomAD v4:
2-96251586-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251586G>T , CM000664.2:g.96251586G>T | GRCh38 |
| NC_000002.11:g.96917324G>T , CM000664.1:g.96917324G>T | GRCh37 |
| NC_000002.10:g.96281051G>T | NCBI36 |
| NG_027695.1:g.19428C>A , LRG_528:g.19428C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*2222C>A MANE Select | ENSP00000258439.3:n.*2222C>A | |
| ENST00000258439.7:c.*2222C>A | ENSP00000258439.2:n.*2222C>A | |
| NM_001193304.2:c.*2222C>A | NP_001180233.1:n.*2222C>A | |
| NM_017849.3:c.*2222C>A , LRG_528t1:c.*2222C>A | NP_060319.1:n.*2222C>A | |
| XM_017004450.1:c.*1523C>A | XP_016859939.1:n.*1523C>A | |
| XM_017004452.1:c.*2222C>A | XP_016859941.1:n.*2222C>A | |
| NM_001193304.3:c.*2222C>A | NP_001180233.1:n.*2222C>A | |
| NM_017849.4:c.*2222C>A MANE Select | NP_060319.1:n.*2222C>A |