Linked Data
ClinVar Variation Id:
376777
dbSNP Id:
rs146251034
ExAC:
X:13778639 C / T
gnomAD v2:
X-13778639-C-T
gnomAD v3:
X-13760520-C-T
gnomAD v4:
X-13760520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13760520C>T , CM000685.2:g.13760520C>T | GRCh38 |
| NC_000023.10:g.13778639C>T , CM000685.1:g.13778639C>T | GRCh37 |
| NC_000023.9:g.13688560C>T | NCBI36 |
| NG_008872.1:g.30808C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*1753C>T | ENSP00000369941.2:n.*1753C>T | |
| ENST00000398395.8:c.*1521C>T | ENSP00000381432.5:n.*1521C>T | |
| ENST00000464463.6:n.3889C>T | ||
| ENST00000490265.6:n.2589C>T | ||
| ENST00000682237.1:c.*1620C>T | ENSP00000507121.1:n.*1620C>T | |
| ENST00000682562.1:c.*3462C>T | ENSP00000507874.1:n.*3462C>T | |
| ENST00000682953.1:c.*2787C>T | ENSP00000507878.1:n.*2787C>T | |
| ENST00000683055.1:c.*3041C>T | ENSP00000508191.1:n.*3041C>T | |
| ENST00000683284.1:c.*2291C>T | ENSP00000507837.1:n.*2291C>T | |
| ENST00000683427.1:c.*717C>T | ENSP00000507290.1:n.*717C>T | |
| ENST00000683454.1:n.2074C>T | ||
| ENST00000683637.1:n.3169C>T | ||
| ENST00000683655.1:c.*2274C>T | ENSP00000506770.1:n.*2274C>T | |
| ENST00000683713.1:c.*2291C>T | ENSP00000507797.1:n.*2291C>T | |
| ENST00000684577.1:c.*1757C>T | ENSP00000507871.1:n.*1757C>T | |
| ENST00000340096.11:c.2060C>T MANE Select | ENSP00000344314.6:p.Pro687Leu | |
| ENST00000340096.10:c.2060C>T | ENSP00000344314.6:p.Pro687Leu | |
| ENST00000380550.6:c.1940C>T | ENSP00000369923.3:p.Pro647Leu | |
| ENST00000380567.5:c.1640C>T | ENSP00000369941.1:p.Pro547Leu | |
| ENST00000398395.7:c.*400C>T | ENSP00000381432.4:n.*400C>T | |
| ENST00000490265.5:n.3035C>T | ||
| NM_003611.2:c.2060C>T | NP_003602.1:p.Pro687Leu | |
| XM_005274599.2:c.2081C>T | XP_005274656.1:p.Pro694Leu | |
| XM_005274602.2:c.2081C>T | XP_005274659.1:p.Pro694Leu | |
| XM_005274603.2:c.1961C>T | XP_005274660.1:p.Pro654Leu | |
| XM_005274604.2:c.1940C>T | XP_005274661.1:p.Pro647Leu | |
| XM_005274606.2:c.1916C>T | XP_005274663.1:p.Pro639Leu | |
| XM_005274607.3:c.1640C>T | XP_005274664.1:p.Pro547Leu | |
| XM_011545591.1:c.2081C>T | XP_011543893.1:p.Pro694Leu | |
| XM_011545592.1:c.1868C>T | XP_011543894.1:p.Pro623Leu | |
| XM_011545593.1:c.2081C>T | XP_011543895.1:p.Pro694Leu | |
| XM_011545594.1:c.1739C>T | XP_011543896.1:p.Pro580Leu | |
| XM_011545595.1:c.1739C>T | XP_011543897.1:p.Pro580Leu | |
| XM_011545596.1:c.2081C>T | XP_011543898.1:p.Pro694Leu | |
| XM_011545597.1:c.1640C>T | XP_011543899.1:p.Pro547Leu | |
| XM_011545598.1:c.785C>T | XP_011543900.1:p.Pro262Leu | |
| XR_247288.2:n.2420C>T | ||
| NM_001330209.1:c.1940C>T | NP_001317138.1:p.Pro647Leu | |
| NM_001330210.1:c.1640C>T | NP_001317139.1:p.Pro547Leu | |
| XM_005274606.4:c.1916C>T | XP_005274663.1:p.Pro639Leu | |
| XM_011545592.3:c.1868C>T | XP_011543894.1:p.Pro623Leu | |
| XM_011545594.3:c.1739C>T | XP_011543896.1:p.Pro580Leu | |
| XM_011545597.2:c.1640C>T | XP_011543899.1:p.Pro547Leu | |
| XM_017029909.1:c.1640C>T | XP_016885398.1:p.Pro547Leu | |
| XM_017029911.1:c.1118C>T | XP_016885400.1:p.Pro373Leu | |
| XM_024452468.1:c.785C>T | XP_024308236.1:p.Pro262Leu | |
| XM_024452469.1:c.785C>T | XP_024308237.1:p.Pro262Leu | |
| XM_024452470.1:c.785C>T | XP_024308238.1:p.Pro262Leu | |
| XM_024452471.1:c.785C>T | XP_024308239.1:p.Pro262Leu | |
| NM_003611.3:c.2060C>T MANE Select | NP_003602.1:p.Pro687Leu | |
| NM_001330209.2:c.1940C>T | NP_001317138.1:p.Pro647Leu | |
| NM_001330210.2:c.1640C>T | NP_001317139.1:p.Pro547Leu |