Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541684C>G , CM000663.2:g.169541684C>G | GRCh38 |
| NC_000001.10:g.169510922C>G , CM000663.1:g.169510922C>G | GRCh37 |
| NC_000001.9:g.167777546C>G | NCBI36 |
| NG_011806.1:g.49848G>C , LRG_553:g.49848G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.3406G>C MANE Select | ENSP00000356771.3:p.Asp1136His | |
| ENST00000367796.3:c.3421G>C | ENSP00000356770.3:p.Asp1141His | |
| ENST00000367797.7:c.3406G>C | ENSP00000356771.3:p.Asp1136His | |
| NM_000130.4:c.3406G>C , LRG_553t1:c.3406G>C | NP_000121.2:p.Asp1136His | |
| XM_017000660.2:c.2995G>C | XP_016856149.1:p.Asp999His | |
| NM_000130.5:c.3406G>C MANE Select | NP_000121.2:p.Asp1136His |