Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438990T>G , CM000682.2:g.33438990T>G | GRCh38 |
| NC_000020.10:g.32026796T>G , CM000682.1:g.32026796T>G | GRCh37 |
| NC_000020.9:g.31490457T>G | NCBI36 |
| NG_011622.1:g.9903A>C , LRG_332:g.9903A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.347A>C MANE Select | ENSP00000217381.2:p.Lys116Thr | |
| ENST00000217381.2:c.347A>C | ENSP00000217381.2:p.Lys116Thr | |
| NM_003098.2:c.347A>C , LRG_332t1:c.347A>C | NP_003089.1:p.Lys116Thr | |
| XM_005260517.1:c.347A>C | XP_005260574.1:p.Lys116Thr | |
| XM_011529007.1:c.347A>C | XP_011527309.1:p.Lys116Thr | |
| XM_011529008.1:c.347A>C | XP_011527310.1:p.Lys116Thr | |
| XR_936612.1:n.580A>C | ||
| XM_024451971.1:c.20A>C | XP_024307739.1:p.Lys7Thr | |
| NM_003098.3:c.347A>C MANE Select | NP_003089.1:p.Lys116Thr |