gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55485677C>G , CM000678.2:g.55485677C>G | GRCh38 |
| NC_000016.9:g.55519589C>G , CM000678.1:g.55519589C>G | GRCh37 |
| NC_000016.8:g.54077090C>G | NCBI36 |
| NG_008989.1:g.11509C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.732C>G MANE Select | ENSP00000219070.4:p.Tyr244Ter | |
| ENST00000219070.8:c.732C>G | ENSP00000219070.4:p.Tyr244Ter | |
| ENST00000437642.6:c.582C>G | ENSP00000394237.2:p.Tyr194Ter | |
| ENST00000543485.5:c.504C>G | ENSP00000444143.1:p.Tyr168Ter | |
| ENST00000564864.5:c.504C>G | ENSP00000456096.1:p.Tyr168Ter | |
| ENST00000570308.5:c.504C>G | ENSP00000461421.1:p.Tyr168Ter | |
| NM_001127891.2:c.582C>G | NP_001121363.1:p.Tyr194Ter | |
| NM_001302508.1:c.504C>G | NP_001289437.1:p.Tyr168Ter | |
| NM_001302509.1:c.504C>G | NP_001289438.1:p.Tyr168Ter | |
| NM_001302510.1:c.504C>G | NP_001289439.1:p.Tyr168Ter | |
| NM_004530.5:c.732C>G | NP_004521.1:p.Tyr244Ter | |
| NM_004530.6:c.732C>G MANE Select | NP_004521.1:p.Tyr244Ter | |
| NM_001127891.3:c.582C>G | NP_001121363.1:p.Tyr194Ter | |
| NM_001302509.2:c.504C>G | NP_001289438.1:p.Tyr168Ter | |
| NM_001302510.2:c.504C>G | NP_001289439.1:p.Tyr168Ter |