Linked Data
ClinVar Variation Id:
29941
ClinVar RCV Id:
RCV000022833
dbSNP Id:
rs387906705
gnomAD v4:
X-41561588-G-A
PubMed:
PMID:21954287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41561588G>A , CM000685.2:g.41561588G>A | GRCh38 |
| NC_000023.10:g.41420841G>A , CM000685.1:g.41420841G>A | GRCh37 |
| NC_000023.9:g.41305785G>A | NCBI36 |
| NG_016754.1:g.366447C>T | |
| NG_016754.2:g.366447C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378154.3:c.1639C>T | ENSP00000367396.2:p.Gln547Ter | |
| ENST00000378158.6:c.1621C>T | ENSP00000367400.2:p.Gln541Ter | |
| ENST00000378163.7:c.1639C>T MANE Select | ENSP00000367405.1:p.Gln547Ter | |
| ENST00000378166.9:c.1621C>T | ENSP00000367408.5:p.Gln541Ter | |
| ENST00000378168.8:c.1657C>T | ENSP00000367410.4:p.Gln553Ter | |
| ENST00000378179.9:c.328C>T | ENSP00000367421.4:p.Gln110Ter | |
| ENST00000421587.8:c.1639C>T | ENSP00000400526.4:p.Gln547Ter | |
| ENST00000442742.7:c.1621C>T | ENSP00000398007.3:p.Gln541Ter | |
| ENST00000472704.3:n.250C>T | ||
| ENST00000642584.1:n.1295C>T | ||
| ENST00000643043.2:c.1084C>T | ENSP00000493518.2:p.Gln362Ter | |
| ENST00000644219.1:c.1621C>T | ENSP00000495357.1:p.Gln541Ter | |
| ENST00000644347.1:c.1621C>T | ENSP00000494183.1:p.Gln541Ter | |
| ENST00000645566.1:c.1639C>T | ENSP00000494788.1:p.Gln547Ter | |
| ENST00000645937.2:n.1939C>T | ||
| ENST00000645986.2:c.1621C>T | ENSP00000494409.2:p.Gln541Ter | |
| ENST00000646087.2:c.1066C>T | ENSP00000495510.2:p.Gln356Ter | |
| ENST00000646120.2:c.1639C>T | ENSP00000495291.2:p.Gln547Ter | |
| ENST00000675354.1:c.1657C>T | ENSP00000502315.1:p.Gln553Ter | |
| ENST00000378154.1:c.1639C>T | ENSP00000367396.1:p.Gln547Ter | |
| ENST00000378158.5:c.1639C>T | ENSP00000367400.1:p.Gln547Ter | |
| ENST00000378163.5:c.1639C>T | ENSP00000367405.1:p.Gln547Ter | |
| ENST00000378166.8:c.1639C>T | ENSP00000367408.4:p.Gln547Ter | |
| ENST00000378168.6:c.40C>T | ENSP00000367410.2:p.Gln14Ter | |
| ENST00000378179.7:c.484C>T | ENSP00000367421.3:p.Gln162Ter | |
| ENST00000421587.6:c.1621C>T | ENSP00000400526.2:p.Gln541Ter | |
| ENST00000442742.6:c.1639C>T | ENSP00000398007.2:p.Gln547Ter | |
| ENST00000472704.1:n.250C>T | ||
| NM_001126054.2:c.1639C>T | NP_001119526.1:p.Gln547Ter | |
| NM_001126055.2:c.1621C>T | NP_001119527.1:p.Gln541Ter | |
| NM_003688.3:c.1639C>T | NP_003679.2:p.Gln547Ter | |
| XM_005272686.3:c.1621C>T | XP_005272743.1:p.Gln541Ter | |
| XM_006724566.2:c.1621C>T | XP_006724629.1:p.Gln541Ter | |
| XM_011543993.1:c.1639C>T | XP_011542295.1:p.Gln547Ter | |
| XM_011543994.1:c.1639C>T | XP_011542296.1:p.Gln547Ter | |
| XM_011543995.1:c.1639C>T | XP_011542297.1:p.Gln547Ter | |
| XM_011543996.1:c.1639C>T | XP_011542298.1:p.Gln547Ter | |
| XM_011543997.1:c.1066C>T | XP_011542299.1:p.Gln356Ter | |
| XM_005272686.4:c.1621C>T | XP_005272743.1:p.Gln541Ter | |
| XM_006724566.3:c.1621C>T | XP_006724629.1:p.Gln541Ter | |
| XM_011543993.2:c.1639C>T | XP_011542295.1:p.Gln547Ter | |
| XM_011543994.2:c.1639C>T | XP_011542296.1:p.Gln547Ter | |
| XM_011543995.2:c.1639C>T | XP_011542297.1:p.Gln547Ter | |
| XM_011543996.2:c.1639C>T | XP_011542298.1:p.Gln547Ter | |
| XM_011543997.3:c.1066C>T | XP_011542299.1:p.Gln356Ter | |
| XM_024452473.1:c.1066C>T | XP_024308241.1:p.Gln356Ter | |
| NM_001367721.1:c.1639C>T MANE Select | NP_001354650.1:p.Gln547Ter |