Linked Data
gnomAD v4:
X-108084589-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084589T>A , CM000685.2:g.108084589T>A | GRCh38 |
| NC_000023.10:g.107327819T>A , CM000685.1:g.107327819T>A | GRCh37 |
| NC_000023.9:g.107214475T>A | NCBI36 |
| NG_012521.1:g.12030A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*385A>T MANE Select | ENSP00000217958.3:n.*385A>T | |
| ENST00000217958.7:c.*385A>T | ENSP00000217958.3:n.*385A>T | |
| NM_002814.3:c.*385A>T | NP_002805.1:n.*385A>T | |
| NM_170750.2:c.*531A>T | NP_736606.1:n.*531A>T | |
| NM_002814.4:c.*385A>T MANE Select | NP_002805.1:n.*385A>T | |
| NM_170750.3:c.*531A>T | NP_736606.1:n.*531A>T |