Linked Data
gnomAD v4:
4-40354620-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354620G>T , CM000666.2:g.40354620G>T | GRCh38 |
| NC_000004.11:g.40356637G>T , CM000666.1:g.40356637G>T | GRCh37 |
| NC_000004.10:g.40051394G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.*100G>T MANE Select | ENSP00000312663.2:n.*100G>T | |
| ENST00000310169.2:c.*100G>T | ENSP00000312663.2:n.*100G>T | |
| NM_017581.3:c.*100G>T | NP_060051.2:n.*100G>T | |
| NM_017581.4:c.*100G>T MANE Select | NP_060051.2:n.*100G>T |