Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753286C>T , CM000663.2:g.119753286C>T | GRCh38 |
| NC_000001.10:g.120295909C>T , CM000663.1:g.120295909C>T | GRCh37 |
| NC_000001.9:g.120097432C>T | NCBI36 |
| NG_013348.1:g.20647G>A , LRG_447:g.20647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1288G>A MANE Select | ENSP00000358414.3:p.Ala430Thr | |
| ENST00000369406.7:c.1288G>A | ENSP00000358414.3:p.Ala430Thr | |
| ENST00000544913.2:c.1162G>A | ENSP00000439495.2:p.Ala388Thr | |
| NM_001166107.1:c.1162G>A , LRG_447t2:c.1162G>A | NP_001159579.1:p.Ala388Thr | |
| NM_005518.3:c.1288G>A , LRG_447t1:c.1288G>A | NP_005509.1:p.Ala430Thr | |
| XM_011541313.1:c.1123G>A | XP_011539615.1:p.Ala375Thr | |
| XM_011541313.2:c.1123G>A | XP_011539615.1:p.Ala375Thr | |
| NM_005518.4:c.1288G>A MANE Select | NP_005509.1:p.Ala430Thr |