Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541662T>G , CM000663.2:g.169541662T>G | GRCh38 |
| NC_000001.10:g.169510900T>G , CM000663.1:g.169510900T>G | GRCh37 |
| NC_000001.9:g.167777524T>G | NCBI36 |
| NG_011806.1:g.49870A>C , LRG_553:g.49870A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.3428A>C MANE Select | ENSP00000356771.3:p.Asp1143Ala | |
| ENST00000367796.3:c.3443A>C | ENSP00000356770.3:p.Asp1148Ala | |
| ENST00000367797.7:c.3428A>C | ENSP00000356771.3:p.Asp1143Ala | |
| NM_000130.4:c.3428A>C , LRG_553t1:c.3428A>C | NP_000121.2:p.Asp1143Ala | |
| XM_017000660.2:c.3017A>C | XP_016856149.1:p.Asp1006Ala | |
| NM_000130.5:c.3428A>C MANE Select | NP_000121.2:p.Asp1143Ala |