Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7932791G>A , CM000681.2:g.7932791G>A | GRCh38 |
| NC_000019.9:g.7997676G>A , CM000681.1:g.7997676G>A | GRCh37 |
| NC_000019.8:g.7903676G>A | NCBI36 |
| NG_051180.1:g.16033C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006351.4:c.863-40C>T MANE Select | NP_006342.2:n.863-40C>T |
| ENST00000270538.8:c.863-40C>T MANE Select | ENSP00000270538.2:n.863-40C>T |
| NM_006351.3:c.863-40C>T | NP_006342.2:n.863-40C>T |
| ENST00000270538.7:c.863-40C>T | ENSP00000270538.2:n.863-40C>T |
| ENST00000595831.5:c.850-40C>T | |
| ENST00000595876.5:c.*551-40C>T | ENSP00000471596.1:n.*551-40C>T |
| ENST00000597926.1:c.767-40C>T | ENSP00000469389.1:n.767-40C>T |
| ENST00000598675.1:n.269-40C>T |