Linked Data
ClinVar Variation Id:
305067
ClinVar RCV Id:
RCV000407594
dbSNP Id:
rs569659022
ExAC:
11:61136174 G / A
gnomAD v2:
11-61136174-G-A
gnomAD v3:
11-61368702-G-A
gnomAD v4:
11-61368702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61368702G>A , CM000673.2:g.61368702G>A | GRCh38 |
| NC_000011.9:g.61136174G>A , CM000673.1:g.61136174G>A | GRCh37 |
| NC_000011.8:g.60892750G>A | NCBI36 |
| NG_032581.1:g.11702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.376+704G>A | ENSP00000508581.1:n.376+704G>A | |
| ENST00000507563.7:c.*827G>A | ENSP00000510363.1:n.*827G>A | |
| ENST00000542946.2:c.*2468G>A | ENSP00000445792.1:n.*2468G>A | |
| ENST00000543594.6:c.*693G>A | ENSP00000509354.1:n.*693G>A | |
| ENST00000685597.1:c.*245G>A | ENSP00000509403.1:n.*245G>A | |
| ENST00000686820.1:c.*229G>A | ENSP00000508587.1:n.*229G>A | |
| ENST00000688279.1:c.*229G>A | ENSP00000510422.1:n.*229G>A | |
| ENST00000688430.1:n.408G>A | ||
| ENST00000689076.1:c.*1870G>A | ENSP00000508469.1:n.*1870G>A | |
| ENST00000689882.1:c.*2533G>A | ENSP00000509351.1:n.*2533G>A | |
| ENST00000691720.1:c.376+704G>A | ENSP00000509146.1:n.376+704G>A | |
| ENST00000692219.1:c.482G>A | ENSP00000510149.1:p.Arg161Gln | |
| ENST00000692667.1:c.*245G>A | ENSP00000510180.1:n.*245G>A | |
| ENST00000692785.1:c.*546G>A | ENSP00000509310.1:n.*546G>A | |
| ENST00000693557.1:c.*533G>A | ENSP00000508970.1:n.*533G>A | |
| ENST00000278826.11:c.482G>A MANE Select | ENSP00000278826.5:p.Arg161Gln | |
| ENST00000278826.10:c.482G>A | ENSP00000278826.5:p.Arg161Gln | |
| ENST00000381787.2:c.308G>A | ENSP00000371206.2:p.Arg103Gln | |
| ENST00000423772.6:n.2001G>A | ||
| ENST00000539776.1:n.1126G>A | ||
| ENST00000543833.1:n.95-70G>A | ||
| ENST00000545420.1:n.506G>A | ||
| NM_016464.4:c.482G>A | NP_057548.1:p.Arg161Gln | |
| NR_028473.1:n.924G>A | ||
| XM_006718586.1:c.479G>A | XP_006718649.1:p.Arg160Gln | |
| XM_006718588.2:c.308G>A | XP_006718651.1:p.Arg103Gln | |
| XM_011545098.1:c.376+704G>A | XP_011543400.1:n.376+704G>A | |
| XM_011545099.1:c.376+704G>A | XP_011543401.1:n.376+704G>A | |
| XM_011545100.1:c.376+704G>A | XP_011543402.1:n.376+704G>A | |
| XR_949965.1:n.1070+704G>A | ||
| XR_949966.1:n.1070+704G>A | ||
| NM_001330281.1:c.308G>A | NP_001317210.1:p.Arg103Gln | |
| XM_006718585.3:c.*546G>A | XP_006718648.1:n.*546G>A | |
| XM_006718586.2:c.479G>A | XP_006718649.1:p.Arg160Gln | |
| XM_011545098.2:c.376+704G>A | XP_011543400.1:n.376+704G>A | |
| XM_011545099.2:c.376+704G>A | XP_011543401.1:n.376+704G>A | |
| XM_017017917.1:c.300+2486G>A | XP_016873406.1:n.300+2486G>A | |
| XR_949964.3:n.1176G>A | ||
| XR_949966.2:n.1070+704G>A | ||
| NM_016464.5:c.482G>A MANE Select | NP_057548.1:p.Arg161Gln | |
| NM_001330281.2:c.308G>A | NP_001317210.1:p.Arg103Gln | |
| NR_028473.2:n.551G>A |