Linked Data
ClinVar Variation Id:
31190
ClinVar RCV Id:
RCV000024189
dbSNP Id:
rs387907134
PubMed:
PMID:22282472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61367998G>A , CM000673.2:g.61367998G>A | GRCh38 |
| NC_000011.9:g.61135470G>A , CM000673.1:g.61135470G>A | GRCh37 |
| NC_000011.8:g.60892046G>A | NCBI36 |
| NG_032581.1:g.10998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.376G>A | ENSP00000508581.1:p.Gly126Arg | |
| ENST00000507563.7:c.*123G>A | ENSP00000510363.1:n.*123G>A | |
| ENST00000542946.2:c.*1764G>A | ENSP00000445792.1:n.*1764G>A | |
| ENST00000543594.6:c.*587G>A | ENSP00000509354.1:n.*587G>A | |
| ENST00000685597.1:c.376G>A | ENSP00000509403.1:p.Gly126Ser | |
| ENST00000686820.1:c.*123G>A | ENSP00000508587.1:n.*123G>A | |
| ENST00000688279.1:c.*123G>A | ENSP00000510422.1:n.*123G>A | |
| ENST00000688430.1:n.302G>A | ||
| ENST00000689076.1:c.*1764G>A | ENSP00000508469.1:n.*1764G>A | |
| ENST00000689882.1:c.*1829G>A | ENSP00000509351.1:n.*1829G>A | |
| ENST00000691720.1:c.376G>A | ENSP00000509146.1:p.Val126Ile | |
| ENST00000692219.1:c.376G>A | ENSP00000510149.1:p.Ala126Thr | |
| ENST00000692667.1:c.376G>A | ENSP00000510180.1:p.Val126Ile | |
| ENST00000692785.1:c.376G>A | ENSP00000509310.1:p.Gly126Ser | |
| ENST00000693557.1:c.*427G>A | ENSP00000508970.1:n.*427G>A | |
| ENST00000278826.11:c.376G>A MANE Select | ENSP00000278826.5:p.Ala126Thr | |
| ENST00000278826.10:c.376G>A | ENSP00000278826.5:p.Ala126Thr | |
| ENST00000381787.2:c.202G>A | ENSP00000371206.2:p.Ala68Thr | |
| ENST00000423772.6:n.1895G>A | ||
| ENST00000451389.6:n.517G>A | ||
| ENST00000507563.6:n.549G>A | ||
| ENST00000539776.1:n.1020G>A | ||
| ENST00000542946.1:c.*1764G>A | ENSP00000445792.1:n.*1764G>A | |
| ENST00000543833.1:n.94G>A | ||
| ENST00000545420.1:n.400G>A | ||
| NM_016464.4:c.376G>A | NP_057548.1:p.Ala126Thr | |
| NR_028473.1:n.818G>A | ||
| XM_006718585.2:c.376G>A | XP_006718648.1:p.Gly126Ser | |
| XM_006718586.1:c.376G>A | XP_006718649.1:p.Ala126Thr | |
| XM_006718588.2:c.202G>A | XP_006718651.1:p.Ala68Thr | |
| XM_011545098.1:c.376G>A | XP_011543400.1:p.Glu126Lys | |
| XM_011545099.1:c.376G>A | XP_011543401.1:p.Val126Ile | |
| XM_011545100.1:c.376G>A | XP_011543402.1:p.Gly126Arg | |
| XR_949964.1:n.1070G>A | ||
| XR_949965.1:n.1070G>A | ||
| XR_949966.1:n.1070G>A | ||
| NM_001330281.1:c.202G>A | NP_001317210.1:p.Ala68Thr | |
| XM_006718585.3:c.376G>A | XP_006718648.1:p.Gly126Ser | |
| XM_006718586.2:c.376G>A | XP_006718649.1:p.Ala126Thr | |
| XM_011545098.2:c.376G>A | XP_011543400.1:p.Glu126Lys | |
| XM_011545099.2:c.376G>A | XP_011543401.1:p.Val126Ile | |
| XM_017017917.1:c.300+1782G>A | XP_016873406.1:n.300+1782G>A | |
| XR_949964.3:n.1070G>A | ||
| XR_949966.2:n.1070G>A | ||
| NM_016464.5:c.376G>A MANE Select | NP_057548.1:p.Ala126Thr | |
| NM_001330281.2:c.202G>A | NP_001317210.1:p.Ala68Thr | |
| NR_028473.2:n.445G>A |