gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101796712A>T , CM000674.2:g.101796712A>T | GRCh38 |
| NC_000012.11:g.102190490A>T , CM000674.1:g.102190490A>T | GRCh37 |
| NC_000012.10:g.100714621A>T | NCBI36 |
| NG_021243.1:g.39156T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.168T>A MANE Select | ENSP00000299314.7:p.Tyr56Ter | |
| ENST00000647144.1:n.288T>A | ||
| ENST00000299314.11:c.168T>A | ENSP00000299314.7:p.Tyr56Ter | |
| ENST00000392919.4:c.168T>A | ENSP00000376651.4:p.Tyr56Ter | |
| ENST00000549165.1:c.168T>A | ENSP00000450413.1:p.Tyr56Ter | |
| ENST00000549940.5:c.168T>A | ENSP00000449150.1:p.Tyr56Ter | |
| NM_024312.4:c.168T>A | NP_077288.2:p.Tyr56Ter | |
| XM_006719593.2:c.168T>A | XP_006719656.1:p.Tyr56Ter | |
| XM_011538731.1:c.87T>A | XP_011537033.1:p.Tyr29Ter | |
| XM_006719593.3:c.168T>A | XP_006719656.1:p.Tyr56Ter | |
| XM_011538731.2:c.87T>A | XP_011537033.1:p.Tyr29Ter | |
| XM_017019961.1:c.-49T>A | XP_016875450.1:n.-49T>A | |
| XM_017019962.2:c.-1183T>A | XP_016875451.1:n.-1183T>A | |
| NM_024312.5:c.168T>A MANE Select | NP_077288.2:p.Tyr56Ter |