Linked Data
ClinVar Variation Id:
373291
dbSNP Id:
rs1057518332
gnomAD v2:
4-107151523-G-A
gnomAD v4:
4-106230366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106230366G>A , CM000666.2:g.106230366G>A | GRCh38 |
| NC_000004.11:g.107151523G>A , CM000666.1:g.107151523G>A | GRCh37 |
| NC_000004.10:g.107370972G>A | NCBI36 |
| NG_034057.2:g.96130C>T | |
| NG_034057.3:g.91318C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273980.10:c.1771C>T | ENSP00000273980.4:p.Gln591Ter | |
| ENST00000394708.7:c.1771C>T MANE Select | ENSP00000378198.2:p.Gln591Ter | |
| ENST00000273980.9:c.1771C>T | ENSP00000273980.4:p.Gln591Ter | |
| ENST00000361687.8:c.1582C>T | ENSP00000355338.4:p.Gln528Ter | |
| ENST00000394706.7:c.1654C>T | ENSP00000378196.3:p.Gln552Ter | |
| ENST00000394708.6:c.1771C>T | ENSP00000378198.2:p.Gln591Ter | |
| ENST00000432496.6:c.1771C>T | ENSP00000405847.2:p.Gln591Ter | |
| ENST00000467183.6:c.*1410C>T | ENSP00000421182.1:n.*1410C>T | |
| ENST00000506615.1:n.81C>T | ||
| ENST00000510927.5:n.1424C>T | ||
| NM_001163435.2:c.1771C>T | NP_001156907.1:p.Gln591Ter | |
| NM_001163436.2:c.1771C>T | NP_001156908.1:p.Gln591Ter | |
| NM_001163437.2:c.1654C>T | NP_001156909.1:p.Gln552Ter | |
| NM_001290768.1:c.1255C>T | NP_001277697.1:p.Gln419Ter | |
| NM_033115.4:c.1582C>T | NP_149106.2:p.Gln528Ter | |
| XM_006714419.2:c.1771C>T | XP_006714482.1:p.Gln591Ter | |
| XM_011532417.1:c.1771C>T | XP_011530719.1:p.Gln591Ter | |
| XM_011532418.1:c.1453C>T | XP_011530720.1:p.Gln485Ter | |
| XM_011532419.1:c.1255C>T | XP_011530721.1:p.Gln419Ter | |
| XR_938800.1:n.1800C>T | ||
| XM_011532417.2:c.1771C>T | XP_011530719.1:p.Gln591Ter | |
| XM_017008846.1:c.1771C>T | XP_016864335.1:p.Gln591Ter | |
| XM_017008847.2:c.1771C>T | XP_016864336.1:p.Gln591Ter | |
| XM_017008848.1:c.1453C>T | XP_016864337.1:p.Gln485Ter | |
| XM_017008849.1:c.1255C>T | XP_016864338.1:p.Gln419Ter | |
| XM_024454281.1:c.1771C>T | XP_024310049.1:p.Gln591Ter | |
| XM_024454282.1:c.1771C>T | XP_024310050.1:p.Gln591Ter | |
| XR_001741353.2:n.2111C>T | ||
| XR_001741354.2:n.1708C>T | ||
| XR_002959772.1:n.1895C>T | ||
| XR_938800.3:n.2111C>T | ||
| NM_001163435.3:c.1771C>T MANE Select | NP_001156907.2:p.Gln591Ter | |
| NM_001163436.4:c.1771C>T | NP_001156908.2:p.Gln591Ter | |
| NM_001163437.3:c.1654C>T | NP_001156909.2:p.Gln552Ter | |
| NM_001290768.2:c.1255C>T | NP_001277697.2:p.Gln419Ter | |
| NM_033115.5:c.1582C>T | NP_149106.3:p.Gln528Ter |