gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6089053A>T , CM000682.2:g.6089053A>T | GRCh38 |
| NC_000020.10:g.6069700A>T , CM000682.1:g.6069700A>T | GRCh37 |
| NC_000020.9:g.6017700A>T | NCBI36 |
| NG_016213.1:g.39492T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1176T>A | ENSP00000514127.1:p.Tyr392Ter | |
| ENST00000699096.1:n.1638T>A | ||
| ENST00000217289.9:c.1176T>A MANE Select | ENSP00000217289.4:p.Tyr392Ter | |
| ENST00000217289.8:c.1176T>A | ENSP00000217289.4:p.Tyr392Ter | |
| ENST00000478194.1:n.136T>A | ||
| ENST00000536936.1:c.405T>A | ENSP00000441063.1:p.Tyr135Ter | |
| NM_017671.4:c.1176T>A | NP_060141.3:p.Tyr392Ter | |
| XM_024451935.1:c.1176T>A | XP_024307703.1:p.Tyr392Ter | |
| NM_017671.5:c.1176T>A MANE Select | NP_060141.3:p.Tyr392Ter |