Linked Data
ClinVar Variation Id:
158995
ClinVar RCV Id:
RCV000146474
dbSNP Id:
rs587783848
gnomAD v4:
X-150641416-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150641416C>A , CM000685.2:g.150641416C>A | GRCh38 |
| NC_000023.10:g.149809889C>A , CM000685.1:g.149809889C>A | GRCh37 |
| NC_000023.9:g.149560547C>A | NCBI36 |
| NG_008199.1:g.77843C>A , LRG_839:g.77843C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684910.1:c.*209C>A | ENSP00000509844.1:n.*209C>A | |
| ENST00000685439.1:c.331C>A | ENSP00000508454.1:p.Pro111Thr | |
| ENST00000685944.1:c.676C>A | ENSP00000509266.1:p.Pro226Thr | |
| ENST00000686212.1:n.278C>A | ||
| ENST00000687215.1:c.*431C>A | ENSP00000509706.1:n.*431C>A | |
| ENST00000688152.1:c.*120C>A | ENSP00000509360.1:n.*120C>A | |
| ENST00000688403.1:c.-69C>A | ENSP00000508944.1:n.-69C>A | |
| ENST00000689314.1:c.721C>A | ENSP00000510607.1:p.Pro241Thr | |
| ENST00000689694.1:c.676C>A | ENSP00000508718.1:p.Pro226Thr | |
| ENST00000689810.1:c.*325C>A | ENSP00000510635.1:n.*325C>A | |
| ENST00000690282.1:c.-69C>A | ENSP00000509809.1:n.-69C>A | |
| ENST00000690351.1:c.*328C>A | ENSP00000509728.1:n.*328C>A | |
| ENST00000691232.1:c.331C>A | ENSP00000509675.1:p.Pro111Thr | |
| ENST00000691482.1:n.1691C>A | ||
| ENST00000691686.1:c.676C>A | ENSP00000509784.1:p.Pro226Thr | |
| ENST00000691851.1:c.676C>A | ENSP00000510106.1:p.Pro226Thr | |
| ENST00000692015.1:c.463C>A | ENSP00000510634.1:p.Pro155Thr | |
| ENST00000692638.1:c.*481C>A | ENSP00000509412.1:n.*481C>A | |
| ENST00000692852.1:c.676C>A | ENSP00000510337.1:p.Pro226Thr | |
| ENST00000692915.1:c.*883C>A | ENSP00000508547.1:n.*883C>A | |
| ENST00000370396.7:c.676C>A MANE Select | ENSP00000359423.3:p.Pro226Thr | |
| ENST00000306167.11:n.543C>A | ||
| ENST00000370396.6:c.676C>A | ENSP00000359423.2:p.Pro226Thr | |
| ENST00000490530.1:n.615C>A | ||
| NM_000252.2:c.676C>A , LRG_839t1:c.676C>A | NP_000243.1:p.Pro226Thr | |
| XM_005274687.2:c.676C>A | XP_005274744.1:p.Pro226Thr | |
| XM_011531170.1:c.742C>A | XP_011529472.1:p.Pro248Thr | |
| XM_011531171.1:c.721C>A | XP_011529473.1:p.Pro241Thr | |
| XM_011531172.1:c.721C>A | XP_011529474.1:p.Pro241Thr | |
| XM_011531173.1:c.676C>A | XP_011529475.1:p.Pro226Thr | |
| XM_011531173.2:c.676C>A | XP_011529475.1:p.Pro226Thr | |
| XM_017029547.1:c.721C>A | XP_016885036.1:p.Pro241Thr | |
| XM_017029548.1:c.721C>A | XP_016885037.1:p.Pro241Thr | |
| XM_017029549.1:c.676C>A | XP_016885038.1:p.Pro226Thr | |
| XM_017029550.1:c.565C>A | XP_016885039.1:p.Pro189Thr | |
| XM_017029551.2:c.-69C>A | XP_016885040.1:n.-69C>A | |
| NM_000252.3:c.676C>A MANE Select | NP_000243.1:p.Pro226Thr | |
| NM_001376906.1:c.676C>A | NP_001363835.1:p.Pro226Thr | |
| NM_001376907.1:c.565C>A | NP_001363836.1:p.Pro189Thr | |
| NM_001376908.1:c.676C>A | NP_001363837.1:p.Pro226Thr |