Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33417909C>G , CM000682.2:g.33417909C>G | GRCh38 |
| NC_000020.10:g.32005715C>G , CM000682.1:g.32005715C>G | GRCh37 |
| NC_000020.9:g.31469376C>G | NCBI36 |
| NG_011622.1:g.30984G>C , LRG_332:g.30984G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.511G>C MANE Select | ENSP00000217381.2:p.Asp171His | |
| ENST00000217381.2:c.511G>C | ENSP00000217381.2:p.Asp171His | |
| NM_003098.2:c.511G>C , LRG_332t1:c.511G>C | NP_003089.1:p.Asp171His | |
| XM_005260517.1:c.511G>C | XP_005260574.1:p.Asp171His | |
| XM_011529007.1:c.511G>C | XP_011527309.1:p.Asp171His | |
| XM_011529008.1:c.511G>C | XP_011527310.1:p.Asp171His | |
| XR_936612.1:n.744G>C | ||
| XM_024451971.1:c.184G>C | XP_024307739.1:p.Asp62His | |
| NM_003098.3:c.511G>C MANE Select | NP_003089.1:p.Asp171His |