Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779755C>A , CM000669.2:g.107779755C>A | GRCh38 |
| NC_000007.13:g.107420200C>A , CM000669.1:g.107420200C>A | GRCh37 |
| NC_000007.12:g.107207436C>A | NCBI36 |
| NG_008046.1:g.28479G>T , LRG_683:g.28479G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1320G>T MANE Select | ENSP00000345873.5:p.Leu440= | |
| ENST00000340010.9:c.1320G>T | ENSP00000345873.5:p.Leu440= | |
| ENST00000379083.7:c.*1111G>T | ENSP00000368375.3:n.*1111G>T | |
| NM_000111.2:c.1320G>T , LRG_683t1:c.1320G>T | NP_000102.1:p.Leu440= | |
| XM_011515867.1:c.1320G>T | XP_011514169.1:p.Leu440= | |
| NM_000111.3:c.1320G>T MANE Select | NP_000102.1:p.Leu440= |