Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10874380A>T , CM000668.2:g.10874380A>T | GRCh38 |
| NC_000006.11:g.10874613A>T , CM000668.1:g.10874613A>T | GRCh37 |
| NC_000006.10:g.10982599A>T | NCBI36 |
| NG_008970.1:g.12486T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379491.5:c.1136T>A MANE Select | ENSP00000368805.4:p.Leu379Gln | |
| ENST00000379491.4:c.1136T>A | ENSP00000368805.4:p.Leu379Gln | |
| ENST00000480294.1:c.101-17133A>T | ENSP00000417929.1:n.101-17133A>T | |
| NM_004752.3:c.1136T>A | NP_004743.1:p.Leu379Gln | |
| XM_011514991.1:c.1136T>A | XP_011513293.1:p.Leu379Gln | |
| NM_004752.4:c.1136T>A MANE Select | NP_004743.1:p.Leu379Gln |