Linked Data
gnomAD v4:
1-42927040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927040C>T , CM000663.2:g.42927040C>T | GRCh38 |
| NC_000001.10:g.43392711C>T , CM000663.1:g.43392711C>T | GRCh37 |
| NC_000001.9:g.43165298C>T | NCBI36 |
| NG_008232.1:g.37137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.*1G>A MANE Select | ENSP00000416293.2:n.*1G>A | |
| ENST00000674545.1:n.2097G>A | ||
| ENST00000674765.1:c.1030-183G>A | ENSP00000501811.1:n.1030-183G>A | |
| ENST00000675112.1:n.1781G>A | ||
| ENST00000676254.1:n.1929G>A | ||
| ENST00000426263.7:c.*1G>A | ENSP00000416293.2:n.*1G>A | |
| ENST00000475162.3:c.416-62G>A | ||
| ENST00000630287.2:c.*795G>A | ENSP00000486694.1:n.*795G>A | |
| NM_006516.2:c.*1G>A | NP_006507.2:n.*1G>A | |
| NM_006516.3:c.*1G>A | NP_006507.2:n.*1G>A | |
| NM_006516.4:c.*1G>A MANE Select | NP_006507.2:n.*1G>A |