Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87939926A>G , CM000676.2:g.87939926A>G | GRCh38 |
| NC_000014.8:g.88406270A>G , CM000676.1:g.88406270A>G | GRCh37 |
| NC_000014.7:g.87476023A>G | NCBI36 |
| NG_011853.2:g.58638T>C | |
| NG_011853.3:g.58638T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1890T>C MANE Select | ENSP00000261304.2:p.Tyr630= | |
| ENST00000261304.6:c.1890T>C | ENSP00000261304.2:p.Tyr630= | |
| ENST00000393568.8:c.1821T>C | ENSP00000377198.4:p.Tyr607= | |
| ENST00000393569.6:c.1812T>C | ENSP00000377199.2:p.Tyr604= | |
| ENST00000544807.6:c.1722T>C | ENSP00000437513.2:p.Tyr574= | |
| ENST00000555000.5:c.1257T>C | ENSP00000450472.1:p.Tyr419= | |
| ENST00000555179.1:c.426T>C | ||
| NM_000153.3:c.1890T>C | NP_000144.2:p.Tyr630= | |
| NM_001201401.1:c.1821T>C | NP_001188330.1:p.Tyr607= | |
| NM_001201402.1:c.1812T>C | NP_001188331.1:p.Tyr604= | |
| XM_011536618.1:c.1722T>C | XP_011534920.1:p.Tyr574= | |
| XM_011536618.2:c.1722T>C | XP_011534920.1:p.Tyr574= | |
| NM_000153.4:c.1890T>C MANE Select | NP_000144.2:p.Tyr630= | |
| NM_001201401.2:c.1821T>C | NP_001188330.1:p.Tyr607= | |
| NM_001201402.2:c.1812T>C | NP_001188331.1:p.Tyr604= |