Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10875670T>G , CM000668.2:g.10875670T>G | GRCh38 |
| NC_000006.11:g.10875903T>G , CM000668.1:g.10875903T>G | GRCh37 |
| NC_000006.10:g.10983889T>G | NCBI36 |
| NG_008970.1:g.11196A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004752.4:c.582+221A>C MANE Select | NP_004743.1:n.582+221A>C |
| ENST00000379491.5:c.582+221A>C MANE Select | ENSP00000368805.4:n.582+221A>C |
| NM_004752.3:c.582+221A>C | NP_004743.1:n.582+221A>C |
| ENST00000379491.4:c.582+221A>C | ENSP00000368805.4:n.582+221A>C |
| ENST00000480294.1:c.101-15843T>G | ENSP00000417929.1:n.101-15843T>G |
| XM_011514991.1:c.582+221A>C | XP_011513293.1:n.582+221A>C |