gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87993036G>C , CM000676.2:g.87993036G>C | GRCh38 |
| NC_000014.8:g.88459380G>C , CM000676.1:g.88459380G>C | GRCh37 |
| NC_000014.7:g.87529133G>C | NCBI36 |
| NG_011853.2:g.5528C>G | |
| NG_011853.3:g.5528C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.129C>G MANE Select | ENSP00000261304.2:p.Tyr43Ter | |
| ENST00000261304.6:c.129C>G | ENSP00000261304.2:p.Tyr43Ter | |
| ENST00000393568.8:c.129C>G | ENSP00000377198.4:p.Tyr43Ter | |
| ENST00000393569.6:c.117+347C>G | ENSP00000377199.2:n.117+347C>G | |
| ENST00000474294.6:n.119C>G | ||
| ENST00000554372.5:c.129C>G | ENSP00000451884.1:p.Tyr43Ter | |
| ENST00000556879.5:c.87C>G | ENSP00000452208.1:p.Tyr29Ter | |
| ENST00000557316.5:c.129C>G | ENSP00000452314.1:p.Tyr43Ter | |
| ENST00000622264.4:c.119C>G | ||
| NM_000153.3:c.129C>G | NP_000144.2:p.Tyr43Ter | |
| NM_001201401.1:c.129C>G | NP_001188330.1:p.Tyr43Ter | |
| NM_001201402.1:c.117+347C>G | NP_001188331.1:n.117+347C>G | |
| NM_000153.4:c.129C>G MANE Select | NP_000144.2:p.Tyr43Ter | |
| NM_001201401.2:c.129C>G | NP_001188330.1:p.Tyr43Ter | |
| NM_001201402.2:c.117+347C>G | NP_001188331.1:n.117+347C>G |