Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7932831C>A , CM000681.2:g.7932831C>A | GRCh38 |
| NC_000019.9:g.7997716C>A , CM000681.1:g.7997716C>A | GRCh37 |
| NC_000019.8:g.7903716C>A | NCBI36 |
| NG_051180.1:g.15993G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006351.4:c.862+9G>T MANE Select | NP_006342.2:n.862+9G>T |
| ENST00000270538.8:c.862+9G>T MANE Select | ENSP00000270538.2:n.862+9G>T |
| NM_006351.3:c.862+9G>T | NP_006342.2:n.862+9G>T |
| ENST00000270538.7:c.862+9G>T | ENSP00000270538.2:n.862+9G>T |
| ENST00000595831.5:c.849+9G>T | |
| ENST00000595876.5:c.*550+9G>T | ENSP00000471596.1:n.*550+9G>T |
| ENST00000597926.1:c.766+9G>T | ENSP00000469389.1:n.766+9G>T |
| ENST00000598675.1:n.268+9G>T |