Linked Data
gnomAD v4:
X-108084573-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084573C>T , CM000685.2:g.108084573C>T | GRCh38 |
| NC_000023.10:g.107327803C>T , CM000685.1:g.107327803C>T | GRCh37 |
| NC_000023.9:g.107214459C>T | NCBI36 |
| NG_012521.1:g.12046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*401G>A MANE Select | ENSP00000217958.3:n.*401G>A | |
| ENST00000217958.7:c.*401G>A | ENSP00000217958.3:n.*401G>A | |
| NM_002814.3:c.*401G>A | NP_002805.1:n.*401G>A | |
| NM_170750.2:c.*547G>A | NP_736606.1:n.*547G>A | |
| NM_002814.4:c.*401G>A MANE Select | NP_002805.1:n.*401G>A | |
| NM_170750.3:c.*547G>A | NP_736606.1:n.*547G>A |