Linked Data
gnomAD v4:
10-94989033-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989033G>T , CM000672.2:g.94989033G>T | GRCh38 |
| NC_000010.10:g.96748790G>T , CM000672.1:g.96748790G>T | GRCh37 |
| NC_000010.9:g.96738780G>T | NCBI36 |
| NG_008385.1:g.55376G>T | |
| NG_008385.2:g.55876G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*5G>T MANE Select | ENSP00000260682.6:n.*5G>T | |
| ENST00000643112.1:c.*487G>T | ENSP00000496202.1:n.*487G>T | |
| ENST00000260682.6:c.*5G>T | ENSP00000260682.6:n.*5G>T | |
| NM_000771.3:c.*5G>T | NP_000762.2:n.*5G>T | |
| NM_000771.4:c.*5G>T MANE Select | NP_000762.2:n.*5G>T |