Linked Data
ClinVar Variation Id:
219659
dbSNP Id:
rs202103941
ExAC:
X:13757007 C / A
gnomAD v2:
X-13757007-C-A
gnomAD v3:
X-13738888-C-A
gnomAD v4:
X-13738888-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13738888C>A , CM000685.2:g.13738888C>A | GRCh38 |
| NC_000023.10:g.13757007C>A , CM000685.1:g.13757007C>A | GRCh37 |
| NC_000023.9:g.13666928C>A | NCBI36 |
| NG_008872.1:g.9176C>A | |
| NG_011555.1:g.736G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.355C>A | ENSP00000369941.2:p.Pro119Thr | |
| ENST00000398395.8:c.355C>A | ENSP00000381432.5:p.Pro119Thr | |
| ENST00000464463.6:n.638C>A | ||
| ENST00000490265.6:n.217C>A | ||
| ENST00000682237.1:c.355C>A | ENSP00000507121.1:p.Pro119Thr | |
| ENST00000682562.1:c.355C>A | ENSP00000507874.1:p.Pro119Thr | |
| ENST00000682953.1:c.*418C>A | ENSP00000507878.1:n.*418C>A | |
| ENST00000683055.1:c.355C>A | ENSP00000508191.1:p.Pro119Thr | |
| ENST00000683284.1:c.177C>A | ENSP00000507837.1:p.Thr59= | |
| ENST00000683427.1:c.355C>A | ENSP00000507290.1:p.Pro119Thr | |
| ENST00000683454.1:n.244C>A | ||
| ENST00000683655.1:c.355C>A | ENSP00000506770.1:p.Pro119Thr | |
| ENST00000683713.1:c.312+2210C>A | ENSP00000507797.1:n.312+2210C>A | |
| ENST00000684401.1:n.746C>A | ||
| ENST00000684577.1:c.355C>A | ENSP00000507871.1:p.Pro119Thr | |
| ENST00000340096.11:c.355C>A MANE Select | ENSP00000344314.6:p.Pro119Thr | |
| ENST00000340096.10:c.355C>A | ENSP00000344314.6:p.Pro119Thr | |
| ENST00000380550.6:c.355C>A | ENSP00000369923.3:p.Pro119Thr | |
| ENST00000380567.5:c.-191C>A | ENSP00000369941.1:n.-191C>A | |
| ENST00000398395.7:c.-180C>A | ENSP00000381432.4:n.-180C>A | |
| ENST00000466534.1:n.195C>A | ||
| ENST00000490265.5:n.666C>A | ||
| NM_003611.2:c.355C>A | NP_003602.1:p.Pro119Thr | |
| XM_005274599.2:c.376C>A | XP_005274656.1:p.Pro126Thr | |
| XM_005274602.2:c.376C>A | XP_005274659.1:p.Pro126Thr | |
| XM_005274603.2:c.376C>A | XP_005274660.1:p.Pro126Thr | |
| XM_005274604.2:c.355C>A | XP_005274661.1:p.Pro119Thr | |
| XM_005274606.2:c.211C>A | XP_005274663.1:p.Pro71Thr | |
| XM_011545591.1:c.376C>A | XP_011543893.1:p.Pro126Thr | |
| XM_011545592.1:c.163C>A | XP_011543894.1:p.Pro55Thr | |
| XM_011545593.1:c.376C>A | XP_011543895.1:p.Pro126Thr | |
| XM_011545594.1:c.34C>A | XP_011543896.1:p.Pro12Thr | |
| XM_011545595.1:c.34C>A | XP_011543897.1:p.Pro12Thr | |
| XM_011545596.1:c.376C>A | XP_011543898.1:p.Pro126Thr | |
| XM_011545597.1:c.-191C>A | XP_011543899.1:n.-191C>A | |
| XR_247288.2:n.715C>A | ||
| NM_001330209.1:c.355C>A | NP_001317138.1:p.Pro119Thr | |
| NM_001330210.1:c.-191C>A | NP_001317139.1:n.-191C>A | |
| XM_005274606.4:c.211C>A | XP_005274663.1:p.Pro71Thr | |
| XM_011545592.3:c.163C>A | XP_011543894.1:p.Pro55Thr | |
| XM_011545594.3:c.34C>A | XP_011543896.1:p.Pro12Thr | |
| XM_011545597.2:c.-191C>A | XP_011543899.1:n.-191C>A | |
| XM_017029909.1:c.-191C>A | XP_016885398.1:n.-191C>A | |
| XM_024452468.1:c.-1585C>A | XP_024308236.1:n.-1585C>A | |
| XM_024452469.1:c.-1585C>A | XP_024308237.1:n.-1585C>A | |
| XM_024452470.1:c.-1585C>A | XP_024308238.1:n.-1585C>A | |
| XM_024452471.1:c.-1585C>A | XP_024308239.1:n.-1585C>A | |
| NM_003611.3:c.355C>A MANE Select | NP_003602.1:p.Pro119Thr | |
| NM_001330209.2:c.355C>A | NP_001317138.1:p.Pro119Thr | |
| NM_001330210.2:c.-191C>A | NP_001317139.1:n.-191C>A |