gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23580127G>A , CM000684.2:g.23580127G>A | GRCh38 |
| NC_000022.10:g.23922314G>A , CM000684.1:g.23922314G>A | GRCh37 |
| NC_000022.9:g.22252314G>A | NCBI36 |
| NG_009791.1:g.5182C>T , LRG_69:g.5182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.64C>T MANE Select | ENSP00000329312.2:p.Gln22Ter | |
| ENST00000249053.3:c.64C>T | ENSP00000249053.3:p.Gln22Ter | |
| ENST00000330377.2:c.64C>T | ENSP00000329312.2:p.Gln22Ter | |
| ENST00000438703.1:c.64C>T | ENSP00000403391.1:p.Gln22Ter | |
| NM_020070.3:c.64C>T | NP_064455.1:p.Gln22Ter | |
| NM_152855.2:c.64C>T | NP_690594.1:p.Gln22Ter | |
| XM_011530169.1:c.64C>T | XP_011528471.1:p.Gln22Ter | |
| XM_011530169.2:c.64C>T | XP_011528471.1:p.Gln22Ter | |
| NM_020070.4:c.64C>T MANE Select | NP_064455.1:p.Gln22Ter | |
| NM_001369906.1:c.64C>T | NP_001356835.1:p.Gln22Ter | |
| NM_152855.3:c.64C>T | NP_690594.1:p.Gln22Ter |