Linked Data
gnomAD v4:
2-48755740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48755740C>T , CM000664.2:g.48755740C>T | GRCh38 |
| NC_000002.11:g.48982879C>T , CM000664.1:g.48982879C>T | GRCh37 |
| NC_000002.10:g.48836383C>T | NCBI36 |
| NG_008193.1:g.5002G>A | |
| NG_033050.1:g.230816C>T | |
| NG_008193.2:g.5002G>A | |
| NG_033050.2:g.230816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402114.6:c.3442-20540C>T (STON1-GTF2A1L) | ENSP00000385701.1:n.3442-20540C>T | |
| NM_000233.3:c.-69G>A (LHCGR) | NP_000224.2:n.-69G>A | |
| NM_001198593.1:c.3442-20540C>T (STON1-GTF2A1L) | NP_001185522.1:n.3442-20540C>T | |
| NM_001198593.2:c.3442-20540C>T (STON1-GTF2A1L) | NP_001185522.1:n.3442-20540C>T |