Linked Data
ClinVar Variation Id:
11531
ClinVar RCV Id:
RCV000012287
dbSNP Id:
rs387906499
gnomAD v4:
X-41636578-C-T
PubMed:
PMID:19165920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41636578C>T , CM000685.2:g.41636578C>T | GRCh38 |
| NC_000023.10:g.41495831C>T , CM000685.1:g.41495831C>T | GRCh37 |
| NC_000023.9:g.41380775C>T | NCBI36 |
| NG_016754.1:g.291457G>A | |
| NG_016754.2:g.291457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.915G>A | ENSP00000367396.2:p.Lys305= | |
| ENST00000378158.6:c.915G>A | ENSP00000367400.2:p.Lys305= | |
| ENST00000378163.7:c.915G>A MANE Select | ENSP00000367405.1:p.Lys305= | |
| ENST00000378166.9:c.915G>A | ENSP00000367408.5:p.Lys305= | |
| ENST00000378168.8:c.933G>A | ENSP00000367410.4:p.Lys311= | |
| ENST00000421587.8:c.933G>A | ENSP00000400526.4:p.Lys311= | |
| ENST00000442742.7:c.915G>A | ENSP00000398007.3:p.Lys305= | |
| ENST00000643043.2:c.360G>A | ENSP00000493518.2:p.Lys120= | |
| ENST00000643831.2:c.915G>A | ENSP00000494388.2:p.Lys305= | |
| ENST00000643853.1:n.629G>A | ||
| ENST00000644219.1:c.915G>A | ENSP00000495357.1:p.Lys305= | |
| ENST00000644347.1:c.915G>A | ENSP00000494183.1:p.Lys305= | |
| ENST00000645566.1:c.915G>A | ENSP00000494788.1:p.Lys305= | |
| ENST00000645986.2:c.915G>A | ENSP00000494409.2:p.Lys305= | |
| ENST00000646087.2:c.360G>A | ENSP00000495510.2:p.Lys120= | |
| ENST00000646120.2:c.915G>A | ENSP00000495291.2:p.Lys305= | |
| ENST00000675354.1:c.933G>A | ENSP00000502315.1:p.Lys311= | |
| ENST00000378154.1:c.915G>A | ENSP00000367396.1:p.Lys305= | |
| ENST00000378158.5:c.915G>A | ENSP00000367400.1:p.Lys305= | |
| ENST00000378163.5:c.915G>A | ENSP00000367405.1:p.Lys305= | |
| ENST00000378166.8:c.915G>A | ENSP00000367408.4:p.Lys305= | |
| ENST00000421587.6:c.915G>A | ENSP00000400526.2:p.Lys305= | |
| ENST00000442742.6:c.915G>A | ENSP00000398007.2:p.Lys305= | |
| ENST00000469265.1:n.362G>A | ||
| NM_001126054.2:c.915G>A | NP_001119526.1:p.Lys305= | |
| NM_001126055.2:c.915G>A | NP_001119527.1:p.Lys305= | |
| NM_003688.3:c.915G>A | NP_003679.2:p.Lys305= | |
| XM_005272686.3:c.915G>A | XP_005272743.1:p.Lys305= | |
| XM_006724566.2:c.915G>A | XP_006724629.1:p.Lys305= | |
| XM_011543993.1:c.933G>A | XP_011542295.1:p.Lys311= | |
| XM_011543994.1:c.933G>A | XP_011542296.1:p.Lys311= | |
| XM_011543995.1:c.933G>A | XP_011542297.1:p.Lys311= | |
| XM_011543996.1:c.933G>A | XP_011542298.1:p.Lys311= | |
| XM_011543997.1:c.360G>A | XP_011542299.1:p.Lys120= | |
| XM_005272686.4:c.915G>A | XP_005272743.1:p.Lys305= | |
| XM_006724566.3:c.915G>A | XP_006724629.1:p.Lys305= | |
| XM_011543993.2:c.933G>A | XP_011542295.1:p.Lys311= | |
| XM_011543994.2:c.933G>A | XP_011542296.1:p.Lys311= | |
| XM_011543995.2:c.933G>A | XP_011542297.1:p.Lys311= | |
| XM_011543996.2:c.933G>A | XP_011542298.1:p.Lys311= | |
| XM_011543997.3:c.360G>A | XP_011542299.1:p.Lys120= | |
| XM_024452473.1:c.360G>A | XP_024308241.1:p.Lys120= | |
| NM_001367721.1:c.915G>A MANE Select | NP_001354650.1:p.Lys305= |