gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44862778G>A , CM000679.2:g.44862778G>A | GRCh38 |
| NC_000017.10:g.42940146G>A , CM000679.1:g.42940146G>A | GRCh37 |
| NC_000017.9:g.40295672G>A | NCBI36 |
| NG_032674.1:g.41848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.1542C>T MANE Select | ENSP00000392094.1:p.Tyr514= | |
| ENST00000402521.7:c.1437C>T | ENSP00000385873.2:p.Tyr479= | |
| ENST00000426333.6:c.1542C>T | ENSP00000392094.1:p.Tyr514= | |
| ENST00000585616.5:n.420C>T | ||
| ENST00000585794.5:n.560C>T | ||
| ENST00000586276.5:n.818C>T | ||
| ENST00000587914.1:n.537C>T | ||
| ENST00000590367.5:n.1270C>T | ||
| ENST00000591382.5:c.1542C>T | ENSP00000467805.1:p.Tyr514= | |
| ENST00000592576.5:c.1512C>T | ENSP00000465058.1:p.Tyr504= | |
| NM_001142605.1:c.1437C>T | NP_001136077.1:p.Tyr479= | |
| NM_001258353.1:c.1542C>T | NP_001245282.1:p.Tyr514= | |
| NM_001258354.1:c.1512C>T | NP_001245283.1:p.Tyr504= | |
| NM_004247.3:c.1542C>T | NP_004238.3:p.Tyr514= | |
| XR_934602.1:n.1627C>T | ||
| XR_934602.3:n.1623C>T | ||
| NM_004247.4:c.1542C>T MANE Select | NP_004238.3:p.Tyr514= | |
| NM_001142605.2:c.1437C>T | NP_001136077.1:p.Tyr479= | |
| NM_001258353.2:c.1542C>T | NP_001245282.1:p.Tyr514= | |
| NM_001258354.2:c.1512C>T | NP_001245283.1:p.Tyr504= |