Linked Data
gnomAD v4:
4-52038134-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038134C>A , CM000666.2:g.52038134C>A | GRCh38 |
| NC_000004.11:g.52904300C>A , CM000666.1:g.52904300C>A | GRCh37 |
| NC_000004.10:g.52599057C>A | NCBI36 |
| NG_008891.1:g.5186G>T , LRG_204:g.5186G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.33+93G>T MANE Select | ENSP00000370839.6:n.33+93G>T | |
| ENST00000381431.9:c.33+93G>T | ENSP00000370839.5:n.33+93G>T | |
| ENST00000506357.5:c.19+93G>T | ||
| NM_000232.4:c.33+93G>T , LRG_204t1:c.33+93G>T | NP_000223.1:n.33+93G>T | |
| XM_011534403.1:c.33+93G>T | XP_011532705.1:n.33+93G>T | |
| NM_000232.5:c.33+93G>T MANE Select | NP_000223.1:n.33+93G>T |