Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10877663T>C , CM000668.2:g.10877663T>C | GRCh38 |
| NC_000006.11:g.10877896T>C , CM000668.1:g.10877896T>C | GRCh37 |
| NC_000006.10:g.10985882T>C | NCBI36 |
| NG_008970.1:g.9203A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004752.4:c.91-271A>G MANE Select | NP_004743.1:n.91-271A>G |
| ENST00000379491.5:c.91-271A>G MANE Select | ENSP00000368805.4:n.91-271A>G |
| NM_004752.3:c.91-271A>G | NP_004743.1:n.91-271A>G |
| ENST00000379491.4:c.91-271A>G | ENSP00000368805.4:n.91-271A>G |
| ENST00000480294.1:c.101-13850T>C | ENSP00000417929.1:n.101-13850T>C |
| XM_011514991.1:c.91-271A>G | XP_011513293.1:n.91-271A>G |