Linked Data
gnomAD v4:
22-32104800-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104800T>G , CM000684.2:g.32104800T>G | GRCh38 |
| NC_000022.10:g.32500787T>G , CM000684.1:g.32500787T>G | GRCh37 |
| NC_000022.9:g.30830787T>G | NCBI36 |
| NG_017045.1:g.66769T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1680T>G MANE Select | ENSP00000266088.4:p.Cys560Trp | |
| ENST00000266088.8:c.1680T>G | ENSP00000266088.4:p.Cys560Trp | |
| ENST00000543737.2:c.1299T>G | ENSP00000444898.1:p.Cys433Trp | |
| NM_000343.3:c.1680T>G | NP_000334.1:p.Cys560Trp | |
| NM_001256314.1:c.1299T>G | NP_001243243.1:p.Cys433Trp | |
| XR_938173.1:n.591+2038A>C | ||
| XR_938174.1:n.486+15055A>C | ||
| NM_000343.4:c.1680T>G MANE Select | NP_000334.1:p.Cys560Trp | |
| NM_001256314.2:c.1299T>G | NP_001243243.1:p.Cys433Trp |