Linked Data
gnomAD v4:
1-115033288-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033288G>T , CM000663.2:g.115033288G>T | GRCh38 |
| NC_000001.10:g.115575909G>T , CM000663.1:g.115575909G>T | GRCh37 |
| NC_000001.9:g.115377432G>T | NCBI36 |
| NG_015891.1:g.8495G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.-1-74G>T MANE Select | ENSP00000256592.1:n.-1-74G>T | |
| ENST00000256592.2:c.-1-74G>T | ENSP00000256592.1:n.-1-74G>T | |
| NM_000549.4:c.-1-74G>T | NP_000540.2:n.-1-74G>T | |
| XM_011542065.2:c.-75G>T | XP_011540367.1:n.-75G>T | |
| NM_000549.5:c.-1-74G>T MANE Select | NP_000540.2:n.-1-74G>T |