Linked Data
gnomAD v4:
10-94989115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989115G>A , CM000672.2:g.94989115G>A | GRCh38 |
| NC_000010.10:g.96748872G>A , CM000672.1:g.96748872G>A | GRCh37 |
| NC_000010.9:g.96738862G>A | NCBI36 |
| NG_008385.1:g.55458G>A | |
| NG_008385.2:g.55958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*87G>A MANE Select | ENSP00000260682.6:n.*87G>A | |
| ENST00000643112.1:c.*569G>A | ENSP00000496202.1:n.*569G>A | |
| ENST00000260682.6:c.*87G>A | ENSP00000260682.6:n.*87G>A | |
| NM_000771.3:c.*87G>A | NP_000762.2:n.*87G>A | |
| NM_000771.4:c.*87G>A MANE Select | NP_000762.2:n.*87G>A |