Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31004061C>A , CM000680.2:g.31004061C>A | GRCh38 |
| NC_000018.9:g.28584027C>A , CM000680.1:g.28584027C>A | GRCh37 |
| NC_000018.8:g.26838025C>A | NCBI36 |
| NG_016782.1:g.43755G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001941.5:c.2113+81G>T MANE Select | NP_001932.2:n.2113+81G>T |
| ENST00000360428.9:c.2113+81G>T MANE Select | ENSP00000353608.4:n.2113+81G>T |
| NM_001941.4:c.2113+81G>T | NP_001932.2:n.2113+81G>T |
| NM_024423.3:c.2113+81G>T | NP_077741.2:n.2113+81G>T |
| NM_024423.4:c.2113+81G>T | NP_077741.2:n.2113+81G>T |
| ENST00000360428.8:c.2113+81G>T | ENSP00000353608.4:n.2113+81G>T |
| ENST00000434452.5:c.2113+81G>T | ENSP00000392068.1:n.2113+81G>T |
| ENST00000584980.1:c.237+81G>T |