Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443670C>G , CM000682.2:g.33443670C>G | GRCh38 |
| NC_000020.10:g.32031476C>G , CM000682.1:g.32031476C>G | GRCh37 |
| NC_000020.9:g.31495137C>G | NCBI36 |
| NG_011622.1:g.5223G>C , LRG_332:g.5223G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.-50G>C MANE Select | ENSP00000217381.2:n.-50G>C | |
| ENST00000217381.2:c.-50G>C | ENSP00000217381.2:n.-50G>C | |
| NM_003098.2:c.-50G>C , LRG_332t1:c.-50G>C | NP_003089.1:n.-50G>C | |
| XM_005260517.1:c.-50G>C | XP_005260574.1:n.-50G>C | |
| XM_011529007.1:c.-50G>C | XP_011527309.1:n.-50G>C | |
| XM_011529008.1:c.-50G>C | XP_011527310.1:n.-50G>C | |
| XR_936612.1:n.184G>C | ||
| NM_003098.3:c.-50G>C MANE Select | NP_003089.1:n.-50G>C |