Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753309G>A , CM000663.2:g.119753309G>A | GRCh38 |
| NC_000001.10:g.120295932G>A , CM000663.1:g.120295932G>A | GRCh37 |
| NC_000001.9:g.120097455G>A | NCBI36 |
| NG_013348.1:g.20624C>T , LRG_447:g.20624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1265C>T MANE Select | ENSP00000358414.3:p.Ser422Leu | |
| ENST00000369406.7:c.1265C>T | ENSP00000358414.3:p.Ser422Leu | |
| ENST00000544913.2:c.1139C>T | ENSP00000439495.2:p.Ser380Leu | |
| NM_001166107.1:c.1139C>T , LRG_447t2:c.1139C>T | NP_001159579.1:p.Ser380Leu | |
| NM_005518.3:c.1265C>T , LRG_447t1:c.1265C>T | NP_005509.1:p.Ser422Leu | |
| XM_011541313.1:c.1100C>T | XP_011539615.1:p.Ser367Leu | |
| XM_011541313.2:c.1100C>T | XP_011539615.1:p.Ser367Leu | |
| NM_005518.4:c.1265C>T MANE Select | NP_005509.1:p.Ser422Leu |