Linked Data
ClinVar Variation Id:
370396
ClinVar RCV Id:
RCV000409680
dbSNP Id:
rs1057516456
gnomAD v4:
15-34257677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34257677G>A , CM000677.2:g.34257677G>A | GRCh38 |
| NC_000015.9:g.34549878G>A , CM000677.1:g.34549878G>A | GRCh37 |
| NC_000015.8:g.32337170G>A | NCBI36 |
| NG_007951.1:g.85388C>T , LRG_270:g.85388C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354181.8:c.655C>T MANE Select | ENSP00000346112.3:p.Gln219Ter | |
| ENST00000675289.1:n.1437C>T | ||
| ENST00000676379.1:c.655C>T | ENSP00000502539.1:p.Gln219Ter | |
| ENST00000290209.9:c.502C>T | ENSP00000290209.5:p.Gln168Ter | |
| ENST00000354181.7:c.655C>T | ENSP00000346112.3:p.Gln219Ter | |
| ENST00000397702.6:c.478C>T | ENSP00000380814.2:p.Gln160Ter | |
| ENST00000397707.6:c.610C>T | ENSP00000380819.2:p.Gln204Ter | |
| ENST00000458406.6:c.478C>T | ENSP00000387725.2:p.Gln160Ter | |
| ENST00000558589.5:c.628C>T | ENSP00000452776.1:p.Gln210Ter | |
| ENST00000558667.5:c.655C>T | ENSP00000453473.1:p.Gln219Ter | |
| ENST00000559523.5:c.478C>T | ENSP00000452904.1:p.Gln160Ter | |
| ENST00000559664.5:c.655C>T | ENSP00000453702.1:p.Gln219Ter | |
| ENST00000560164.5:c.126+1136C>T | ENSP00000452705.1:n.126+1136C>T | |
| ENST00000560332.1:c.238C>T | ENSP00000454037.1:p.Gln80Ter | |
| ENST00000560611.5:c.655C>T | ENSP00000454168.1:p.Gln219Ter | |
| ENST00000561080.5:c.655C>T | ENSP00000454069.1:p.Gln219Ter | |
| NM_001042494.1:c.478C>T | NP_001035959.1:p.Gln160Ter | |
| NM_001042495.1:c.478C>T | NP_001035960.1:p.Gln160Ter | |
| NM_001042496.1:c.628C>T | NP_001035961.1:p.Gln210Ter | |
| NM_001042497.1:c.610C>T | NP_001035962.1:p.Gln204Ter | |
| NM_005135.2:c.502C>T , LRG_270t1:c.502C>T | NP_005126.1:p.Gln168Ter | |
| NM_133647.1:c.655C>T , LRG_270t2:c.655C>T | NP_598408.1:p.Gln219Ter | |
| XM_006720793.2:c.543+1136C>T | XP_006720856.1:n.543+1136C>T | |
| XM_011522267.1:c.655C>T | XP_011520569.1:p.Gln219Ter | |
| XM_011522268.1:c.655C>T | XP_011520570.1:p.Gln219Ter | |
| XM_011522269.1:c.655C>T | XP_011520571.1:p.Gln219Ter | |
| XR_429476.2:n.661C>T | ||
| XR_931960.1:n.661C>T | ||
| XR_931961.1:n.661C>T | ||
| NM_001365088.1:c.655C>T MANE Select | NP_001352017.1:p.Gln219Ter | |
| XM_006720793.4:c.543+1136C>T | XP_006720856.1:n.543+1136C>T | |
| XM_011522269.3:c.655C>T | XP_011520571.1:p.Gln219Ter | |
| XR_931960.3:n.1905C>T | ||
| NM_001042494.2:c.478C>T | NP_001035959.1:p.Gln160Ter | |
| NM_001042495.2:c.478C>T | NP_001035960.1:p.Gln160Ter | |
| NM_001042496.2:c.628C>T | NP_001035961.1:p.Gln210Ter | |
| NM_001042497.2:c.610C>T | NP_001035962.1:p.Gln204Ter | |
| NM_133647.2:c.655C>T | NP_598408.1:p.Gln219Ter |