Linked Data
gnomAD v4:
1-115033242-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033242A>G , CM000663.2:g.115033242A>G | GRCh38 |
| NC_000001.10:g.115575863A>G , CM000663.1:g.115575863A>G | GRCh37 |
| NC_000001.9:g.115377386A>G | NCBI36 |
| NG_015891.1:g.8449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.-1-120A>G MANE Select | ENSP00000256592.1:n.-1-120A>G | |
| ENST00000256592.2:c.-1-120A>G | ENSP00000256592.1:n.-1-120A>G | |
| NM_000549.4:c.-1-120A>G | NP_000540.2:n.-1-120A>G | |
| NM_000549.5:c.-1-120A>G MANE Select | NP_000540.2:n.-1-120A>G |