Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19331389C>T , CM000684.2:g.19331389C>T | GRCh38 |
| NC_000022.10:g.19318912C>T , CM000684.1:g.19318912C>T | GRCh37 |
| NC_000022.9:g.17698912C>T | NCBI36 |
| NG_009231.1:g.105308G>A | |
| NG_009231.2:g.105308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263208.5:c.*51G>A MANE Select | ENSP00000263208.5:n.*51G>A | |
| ENST00000340170.8:c.*51G>A | ENSP00000345350.4:n.*51G>A | |
| NM_003325.3:c.*51G>A | NP_003316.3:n.*51G>A | |
| XR_938000.1:n.594-165C>T | ||
| XR_938001.1:n.594-165C>T | ||
| XR_938002.1:n.700-165C>T | ||
| XR_938000.2:n.712-165C>T | ||
| XR_938001.2:n.600-165C>T | ||
| XR_938002.2:n.706-165C>T | ||
| NM_003325.4:c.*51G>A MANE Select | NP_003316.3:n.*51G>A |